174 results on '"Weir, B.S."'
Search Results
2. The transitivity of the Hardy-Weinberg law
- Author
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Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, and Weir, B.S.
- Abstract
The Hardy–Weinberg law is shown to be transitive in the sense that a multi-allelic polymorphism that is in equilibrium will retain its equilibrium status if any allele together with its corresponding genotypes is deleted from the population. Similarly, the transitivity principle also applies if alleles are joined, which leads to the summation of allele frequencies and their corresponding genotype frequencies. These basic polymorphism properties are intuitive, but they have apparently not been formalized or investigated. This article provides a straightforward proof of the transitivity principle, and its usefulness in genetic data analysis is explored, using high-quality autosomal microsatellite databases from the US National Institute of Standards and Technology. We address the reduction of multi-allelic polymorphisms to variants with fewer alleles, two in the limit. Equilibrium test results obtained with the original and reduced polymorphisms are generally observed to be coherent, in particular when results obtained with length-based and sequence-based microsatellites are compared. We exploit the transitivity principle in order to identify disequilibrium-related alleles, and show its usefulness for detecting population substructure and genotyping problems that relate to null alleles and allele imbalance., Peer Reviewed, Postprint (published version)
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- 2022
3. DNA commission of the International Society of Forensic Genetics: Recommendations on the evaluation of STR typing results that may include drop-out and/or drop-in using probabilistic methods
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Gill, P., Gusmão, L., Haned, H., Mayr, W.R., Morling, N., Parson, W., Prieto, L., Prinz, M., Schneider, H., Schneider, P.M., and Weir, B.S.
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- 2012
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4. The interpretation of lineage markers in forensic DNA testing
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Buckleton, J.S., Krawczak, M., and Weir, B.S.
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- 2011
- Full Text
- View/download PDF
5. Fusarium: more than a node or a foot-shaped basal cell
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Crous, P.W., Lombard, L., Sandoval-Denis, M., Seifert, K.A., Schroers, H.-J., Chaverri, P., Gené, J., Guarro, J., Hirooka, Y., Bensch, K., Kema, G.H.J., Lamprecht, S.C., Cai, L., Rossman, A.Y., Stadler, M., Summerbell, R.C., Taylor, J.W., Ploch, S., Visagie, C.M., Yilmaz, N., Frisvad, J.C., Abdel-Azeem, A.M., Abdollahzadeh, J., Abdolrasouli, A., Akulov, A., Alberts, J.F., Araújo, J.P.M., Ariyawansa, H.A., Bakhshi, M., Bendiksby, M., Amor, A. Ben Hadj, Bezerra, J.D.P., Boekhout, T., Câmara, M.P.S., Carbia, M., Cardinali, G., Castañeda-Ruiz, R.F., Celis, A., Chaturvedi, V., Collemare, J., Croll, D., Damm, U., Decock, C.A., Vries, R.P. de, Ezekiel, C.N., Fan, X.L., Fernández, N.B., Gaya, E., González, C.D., Gramaje, D., Groenewald, J.Z., Grube, M., Guevara-Suarez, M., Gupta, V.K., Guarnaccia, V., Haddaji, A., Hagen, F., Haelewaters, D., Hansen, K., Hashimoto, A., Hernández-Restrepo, M., Houbraken, J., Hubka, V., Hyde, K.D., Iturriaga, T., Jeewon, R., Johnston, P.R., Jurjević, Ž., Karalti, İ., Korsten, L., Kuramae, E.E., Kušan, I., Labuda, R., Lawrence, D.P., Lee, H.B., Lechat, C., Li, H.Y., Litovka, Y.A., Maharachchikumbura, S.S.N., Marin-Felix, Y., Kemkuignou, B. Matio, Matočec, N., McTaggart, A.R., Mlčoch, P., Mugnai, L., Nakashima, C., Nilsson, R.H., Noumeur, S.R., Pavlov, I.N., Peralta, M.P., Phillips, A.J.L., Pitt, J.I., Polizzi, G., Quaedvlieg, W., Rajeshkumar, K.C., Restrepo, S., Rhaiem, A., Robert, J., Robert, V., Rodrigues, A.M., Salgado-Salazar, C., Samson, R.A., Santos, A.C.S., Shivas, R.G., Souza-Motta, C.M., Sun, G.Y., Swart, W.J., Szoke, S., Tan, Y.P., Taylor, J.E., Taylor, P.W.J., Tiago, P.V., Váczy, K.Z., Wiele, N. van de, Merwe, N.A. van der, Verkley, G.J.M., Vieira, W.A.S., Vizzini, A., Weir, B.S., Wijayawardene, N.N., Xia, J.W., Yáñez-Morales, M.J., Yurkov, A., Zamora, J.C., Zare, R., Zhang, C.L., Thines, M., Crous, P.W., Lombard, L., Sandoval-Denis, M., Seifert, K.A., Schroers, H.-J., Chaverri, P., Gené, J., Guarro, J., Hirooka, Y., Bensch, K., Kema, G.H.J., Lamprecht, S.C., Cai, L., Rossman, A.Y., Stadler, M., Summerbell, R.C., Taylor, J.W., Ploch, S., Visagie, C.M., Yilmaz, N., Frisvad, J.C., Abdel-Azeem, A.M., Abdollahzadeh, J., Abdolrasouli, A., Akulov, A., Alberts, J.F., Araújo, J.P.M., Ariyawansa, H.A., Bakhshi, M., Bendiksby, M., Amor, A. Ben Hadj, Bezerra, J.D.P., Boekhout, T., Câmara, M.P.S., Carbia, M., Cardinali, G., Castañeda-Ruiz, R.F., Celis, A., Chaturvedi, V., Collemare, J., Croll, D., Damm, U., Decock, C.A., Vries, R.P. de, Ezekiel, C.N., Fan, X.L., Fernández, N.B., Gaya, E., González, C.D., Gramaje, D., Groenewald, J.Z., Grube, M., Guevara-Suarez, M., Gupta, V.K., Guarnaccia, V., Haddaji, A., Hagen, F., Haelewaters, D., Hansen, K., Hashimoto, A., Hernández-Restrepo, M., Houbraken, J., Hubka, V., Hyde, K.D., Iturriaga, T., Jeewon, R., Johnston, P.R., Jurjević, Ž., Karalti, İ., Korsten, L., Kuramae, E.E., Kušan, I., Labuda, R., Lawrence, D.P., Lee, H.B., Lechat, C., Li, H.Y., Litovka, Y.A., Maharachchikumbura, S.S.N., Marin-Felix, Y., Kemkuignou, B. Matio, Matočec, N., McTaggart, A.R., Mlčoch, P., Mugnai, L., Nakashima, C., Nilsson, R.H., Noumeur, S.R., Pavlov, I.N., Peralta, M.P., Phillips, A.J.L., Pitt, J.I., Polizzi, G., Quaedvlieg, W., Rajeshkumar, K.C., Restrepo, S., Rhaiem, A., Robert, J., Robert, V., Rodrigues, A.M., Salgado-Salazar, C., Samson, R.A., Santos, A.C.S., Shivas, R.G., Souza-Motta, C.M., Sun, G.Y., Swart, W.J., Szoke, S., Tan, Y.P., Taylor, J.E., Taylor, P.W.J., Tiago, P.V., Váczy, K.Z., Wiele, N. van de, Merwe, N.A. van der, Verkley, G.J.M., Vieira, W.A.S., Vizzini, A., Weir, B.S., Wijayawardene, N.N., Xia, J.W., Yáñez-Morales, M.J., Yurkov, A., Zamora, J.C., Zare, R., Zhang, C.L., and Thines, M.
- Abstract
Recent publications have argued that there are potentially serious consequences for researchers in recognising distinct genera in the terminal fusarioid clade of the family Nectriaceae. Thus, an alternate hypothesis, namely a very broad concept of the genus Fusarium was proposed. In doing so, however, a significant body of data that supports distinct genera in Nectriaceae based on morphology, biology, and phylogeny is disregarded. A DNA phylogeny based on 19 orthologous protein-coding genes was presented to support a very broad concept of Fusarium at the F1 node in Nectriaceae. Here, we demonstrate that re-analyses of this dataset show that all 19 genes support the F3 node that represents Fusarium sensu stricto as defined by F. sambucinum (sexual morph synonym Gibberella pulicaris). The backbone of the phylogeny is resolved by the concatenated alignment, but only six of the 19 genes fully support the F1 node, representing the broad circumscription of Fusarium. Furthermore, a re-analysis of the concatenated dataset revealed alternate topologies in different phylogenetic algorithms, highlighting the deep divergence and unresolved placement of various Nectriaceae lineages proposed as members of Fusarium. Species of Fusarium s. str. are characterised by Gibberella sexual morphs, asexual morphs with thin- or thick-walled macroconidia that have variously shaped apical and basal cells, and trichothecene mycotoxin production, which separates them from other fusarioid genera. Here we show that the Wollenweber concept of Fusarium presently accounts for 20 segregate genera with clear-cut synapomorphic traits, and that fusarioid macroconidia represent a character that has been gained or lost multiple times throughout Nectriaceae. Thus, the very broad circumscription of Fusarium is blurry and without apparent synapomorphies, and does not include all genera with fusarium-like macroconidia, which are spread throughout Nectriaceae (e.g., Cosmosporella, Macroconia, Microcera). In th
- Published
- 2021
6. Fusarium: more than a node or a foot-shaped basal cell
- Author
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Crous, P.W., primary, Lombard, L., additional, Sandoval-Denis, M., additional, Seifert, K.A., additional, Schroers, H.-J., additional, Chaverri, P., additional, Gené, J., additional, Guarro, J., additional, Hirooka, Y., additional, Bensch, K., additional, Kema, G.H.J., additional, Lamprecht, S.C., additional, Cai, L., additional, Rossman, A.Y., additional, Stadler, M., additional, Summerbell, R.C., additional, Taylor, J.W., additional, Ploch, S., additional, Visagie, C.M., additional, Yilmaz, N., additional, Frisvad, J.C., additional, Abdel-Azeem, A.M., additional, Abdollahzadeh, J., additional, Abdolrasouli, A., additional, Akulov, A., additional, Alberts, J.F., additional, Araújo, J.P.M., additional, Ariyawansa, H.A., additional, Bakhshi, M., additional, Bendiksby, M., additional, Ben Hadj Amor, A., additional, Bezerra, J.D.P., additional, Boekhout, T., additional, Câmara, M.P.S., additional, Carbia, M., additional, Cardinali, G., additional, Castañeda-Ruiz, R.F., additional, Celis, A., additional, Chaturvedi, V., additional, Collemare, J., additional, Croll, D., additional, Damm, U., additional, Decock, C.A., additional, de Vries, R.P., additional, Ezekiel, C.N., additional, Fan, X.L., additional, Fernández, N.B., additional, Gaya, E., additional, González, C.D., additional, Gramaje, D., additional, Groenewald, J.Z., additional, Grube, M., additional, Guevara-Suarez, M., additional, Gupta, V.K., additional, Guarnaccia, V., additional, Haddaji, A., additional, Hagen, F., additional, Haelewaters, D., additional, Hansen, K., additional, Hashimoto, A., additional, Hernández-Restrepo, M., additional, Houbraken, J., additional, Hubka, V., additional, Hyde, K.D., additional, Iturriaga, T., additional, Jeewon, R., additional, Johnston, P.R., additional, Jurjević, Ž., additional, Karalti, İ., additional, Korsten, L., additional, Kuramae, E.E., additional, Kušan, I., additional, Labuda, R., additional, Lawrence, D.P., additional, Lee, H.B., additional, Lechat, C., additional, Li, H.Y., additional, Litovka, Y.A., additional, Maharachchikumbura, S.S.N., additional, Marin-Felix, Y., additional, Matio Kemkuignou, B., additional, Matočec, N., additional, McTaggart, A.R., additional, Mlčoch, P., additional, Mugnai, L., additional, Nakashima, C., additional, Nilsson, R.H., additional, Noumeur, S.R., additional, Pavlov, I.N., additional, Peralta, M.P., additional, Phillips, A.J.L., additional, Pitt, J.I., additional, Polizzi, G., additional, Quaedvlieg, W., additional, Rajeshkumar, K.C., additional, Restrepo, S., additional, Rhaiem, A., additional, Robert, J., additional, Robert, V., additional, Rodrigues, A.M., additional, Salgado-Salazar, C., additional, Samson, R.A., additional, Santos, A.C.S., additional, Shivas, R.G., additional, Souza-Motta, C.M., additional, Sun, G.Y., additional, Swart, W.J., additional, Szoke, S., additional, Tan, Y.P., additional, Taylor, J.E., additional, Taylor, P.W.J., additional, Tiago, P.V., additional, Váczy, K.Z., additional, van de Wiele, N., additional, van der Merwe, N.A., additional, Verkley, G.J.M., additional, Vieira, W.A.S., additional, Vizzini, A., additional, Weir, B.S., additional, Wijayawardene, N.N., additional, Xia, J.W., additional, Yáñez-Morales, M.J., additional, Yurkov, A., additional, Zamora, J.C., additional, Zare, R., additional, Zhang, C.L., additional, and Thines, M., additional
- Published
- 2021
- Full Text
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7. Distributions of Hardy--Weinberg equilibrium test statistics
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Rohlfs, R.V. and Weir, B.S.
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Genetic markers -- Identification and classification ,Approximation theory -- Methods ,Statistical methods -- Usage ,Biological sciences - Abstract
It is well established that test statistics and P-values derived from discrete data, such as genetic markers, are also discrete. In most genetic applications, the null distribution for a discrete test statistic is approximated with a continuous distribution, but this approximation may not be reasonable. In some cases using the continuous approximation for the expected null distribution may cause truly null test statistics to appear nonnull. We explore the implications of using continuous distributions to approximate the discrete distributions of Hardy--Weinberg equilibrium test statistics and P-values. We derive exact P-value distributions under the null and alternative hypotheses, enabling a more accurate analysis than is possible with continuous approximations. We apply these methods to biological data and find that using continuous distribution theory with exact tests may underestimate the extent of Hardy--Weinberg disequilibrium in a sample. The implications may be most important for the widespread use of whole-genome case--control association studies and Hardy--Weinberg equilibrium (HWE) testing for data quality control.
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- 2008
8. DNA – Statistical Probability
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Weir, B.S., primary
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- 2013
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9. Effects of population structure and admixture on exact tests for association between loci
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Law, B., Buckleton, J.S., Triggs, C.M., and Weir, B.S.
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Genetic research ,Biological sciences - Abstract
The probability of multilocus genotype counts conditional on allelic counts and on allelic independence provides a test statistic for independence within and between loci. As the number of loci increases and each sampled genotype becomes unique, the conditional probability becomes a function of total heterozygosity. In that case, it does not address between-locus dependence directly but only indirectly through detection of the Wahlund effect. Moreover, the test will reject the hypothesis of allelic independence only for small values of heterozygosity. Low heterozygosity is expected for population subdivision but not for population admixture. The test may therefore be inappropriate for admixed populations. If individuals with parents in two different populations are always considered to belong to one of the populations, then heterozygosity is increased in that population and the exact test should not be used for sparse data sets from that population. If such a case is suspected, then alternative testing strategies are suggested.
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- 2003
10. An assessment of the behavior of the population structure parameter, θ, at the CODIS loci
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Anderson, A.D. and Weir, B.S.
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- 2006
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11. DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures
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Gill, P., Brenner, C.H., Buckleton, J.S., Carracedo, A., Krawczak, M., Mayr, W.R., Morling, N., Prinz, M., Schneider, P.M., and Weir, B.S.
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- 2006
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12. Estimating F-statistics
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Weir, B.S. and Hill, W.G.
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Cladistic analysis -- Usage -- Research ,Inbreeding -- Research -- Usage ,Population genetics -- Research -- Usage ,Biological sciences - Abstract
Key Words population structure, forensic profiles, inbreeding, relatedness Abstract A moment estimator of θ, the coancestry coefficient for alleles within a population, was described by Weir & Cockerham in 1984 [...]
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- 2002
13. Assessing uncertainity in DNA evidence caused by sampling effects.
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Curran, James M., Buckleton, J.S., Triggs, C.M., and Weir, B.S.
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DNA testing -- Analysis ,Forensic genetics -- Research - Published
- 2002
14. Estimating the total number of alleles using a sample coverage method
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Huang, Shu-Pang and Weir, B.S.
- Subjects
Allelomorphism -- Analysis ,Genetic research -- Analysis ,Biological sciences - Abstract
Previously reported methods for estimating the number of different alleles at a single locus in a population have not described a useful general result. Using the number of alleles observed in a sample gives an underestimate for the true number of alleles. The similar problem of estimating the number of species in a population was first investigated in 1943. In this article we use the sample coverage method proposed by Chao and Lee in 1992 to estimate the number of alleles in a population when there are unequal allele frequencies. Simulation studies under the recurrent mutation model show that, for reasonable sample sizes, a significantly better estimate of the true number can be obtained than that using only the observed alleles. Results under the stepwise mutation model and infinite-allele model are presented. Possible applications include improving the characterization of the prior distribution for the allele frequencies, adjusting the estimates of genetic diversity, and estimating the range of microsatellite alleles.
- Published
- 2001
15. Fungal planet description sheets: 558-624
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Ciències Mèdiques Bàsiques, Universitat Rovira i Virgili, Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J., Guevara-Suarez M., Hubka V., Kola?ík M., Lira C.R.S., Ordoñez M.E., Padamsee M., Ryvarden L., Soares A.M., Stchigel A.M., Sutton D.A., Vizzini A., Weir B.S., Acharya K., Aloi F., Baseia I.G., Blanchette R.A., Bordallo J.J., Bratek Z., Butler T., Cano-Canals J., Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J., Guevara-Suarez M., Hubka V., Kola?ík M., Lira C.R.S., Ordoñez M.E., Padamsee M., Ryvarden L., Soares A.M., Stchigel A.M., Sutton D.A., Vizzini A., Weir B.S., Acharya K., Aloi F., Baseia I.G., Blanchette R.A., Bordallo J.J., Bratek Z., Butler T., Cano-Canals J., Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J., Ciències Mèdiques Bàsiques, Universitat Rovira i Virgili, and Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J., Guevara-Suarez M., Hubka V., Kola?ík M., Lira C.R.S., Ordoñez M.E., Padamsee M., Ryvarden L., Soares A.M., Stchigel A.M., Sutton D.A., Vizzini A., Weir B.S., Acharya K., Aloi F., Baseia I.G., Blanchette R.A., Bordallo J.J., Bratek Z., Butler T., Cano-Canals J., Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J., Guevara-Suarez M., Hubka V., Kola?ík M., Lira C.R.S., Ordoñez M.E., Padamsee M., Ryvarden L., Soares A.M., Stchigel A.M., Sutton D.A., Vizzini A., Weir B.S., Acharya K., Aloi F., Baseia I.G., Blanchette R.A., Bordallo J.J., Bratek Z., Butler T., Cano-Canals J., Crous P.W., Wingfield M.J., Burgess T.I., St. J. Hardy G.E., Barber P.A., Alvarado P., Barnes C.W., Buchanan P.K., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S.O., Cano-Lira J.F., Crane C., Decock C., Gibertoni T.B., Guarro J.
- Abstract
Novel species of fungi described in this study include those from various countries as follows: Australia: Banksiophoma australiensis (incl. Banksiophoma gen. nov.) on Banksia coccinea, Davidiellomyces australiensis (incl. Davidiellomyces gen. nov.) on Cyperaceae, Didymocyrtis banksiae on Banksia sessilis var. cygnorum, Disculoides calophyllae on Corymbia calophylla, Harknessia banksiae on Banksia sessilis, Harknessia banksiae-repens on Banksia repens, Harknessia banksiigena on Banksia sessilis var. cygnorum, Harknessia communis on Podocarpus sp., Harknessia platyphyllae on Eucalyptus platyphylla, Myrtacremonium eucalypti (incl. Myrtacremonium gen. nov.) on Eucalyptus globulus, Myrtapenidiella balenae on Eucalyptus sp., Myrtapenidiella eucalyptigena on Eucalyptus sp., Myrtapenidiella pleurocarpae on Eucalyptus pleurocarpa, Paraconiothyrium hakeae on Hakea sp., Paraphaeosphaeria xanthorrhoeae on Xanthorrhoea sp., Parateratosphaeria stirlingiae on Stirlingia sp., Perthomyces podocarpi (incl. Perthomyces gen. nov.) on Podocarpus sp., Readeriella ellipsoidea on Eucalyptus sp., Rosellinia australiensis on Banksia grandis, Tiarosporella corymbiae on Corymbia calophylla, Verrucoconiothyrium eucalyptigenum on Eucalyptus sp., Zasmidium commune on Xanthorrhoea sp., and Zasmidium podocarpi on Podocarpus sp. Brazil: Cyathus aurantogriseocarpus on decaying wood, Perenniporia brasiliensis on decayed wood, Perenniporia paraguyanensis on decayed wood, and Pseudocercospora leandrae-fragilis on Leandra fragilis. Chile: Phialocephala cladophialophoroides on human toe nail. Costa Rica: Psathyrella striatoannulata from soil. Czech Republic: Myotisia cremea (incl. Myotisia gen. nov.) on bat droppings. Ecuador: Humidicutis dictiocephala from soil, Hygrocybe macrosiparia from soil, Hygrocybe s
- Published
- 2017
16. Forensics
- Author
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Weir, B.S., primary
- Published
- 2004
- Full Text
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17. Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits
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Harris, S.E., Corley, J., Wojczynski, M.K., Nauck, M., Levy, D., Gu, C., Sorensen, T.I.A., Noordam, R., Guo, X., Hill, W.D., Chen, Y.-D.I., Liu, C., Yao, J., Kraja, A.T., Daw, E.W., Irvin, M.R., Christensen, C., Newman, A.B., Hansen, T., Hudson, G., Zeng, D., Wu, H., Uitterlinden, A.G., Wareham, N.J., Perls, T.T., Grarup, N., Broeckel, U., Luan, J., Fu, M., Hemani, G., de Mutsert, R., Lin, S.J., Wilson, J.G., Jorgensen, M.E., Witte, D.R., Have, C.T., Ribel-Madsen, R., Wang, Y., Love-Gregory, L.D., Bowden, D.W., Province, M.A., Rotter, J.I., Taylor, A.M., Hunt, S.C., Thyagarajan, B., Goodarzi, M.O., Ridker, P.M., Torp-Pedersen, C., Ligthart, S., Starr, J.M., Feitosa, M.F., Arnett, D.K., de Haan, H.G., Jorgensen, T., Weeke, P.E., Graff, M., de las Fuentes, L., Justice, A.E., Hayward, C., Kerrison, N.D., Pedersen, O., Bonnelykke, K., Perry, J.A., Fetterman, J.L., Hai, Y., Malik, A.N., Vestergaard, H., Cropp, C.D., Ryan, K.A., Christensen, K., The Population Sciences Branch, NHLBI/NIH, Armasu, S.M., Langenberg, C., Forouhi, N.G., Yang, W., Teumer, A., Rodriguez, S., Kardia, S.L.R., Qi, Q., Becker, D.M., Baranski, T.J., Yanek, L.R., Rao, D.C., Fernandez, E.P., Lin, K.-H., Li-Gao, R., Sofer, T., Nohr, E.A., Larson, N.B., Sheu, W.H.-H., Elliott, P., An, P., Schnurr, T.M., Gu, Z., Taylor, K.D., Davies, G., Kilpelainen, T.O., Lee, W.-J., Patki, A., Barve, R.A., Brandslund, I., Sandow, K., Weiss, S., Wang, L., Stergiakouli, E., Mathias, R.A., Ghanbari, M., Tiwari, H.K., Rivadeneira, F., Davila-Roman, V.G., de Andrade, M., North, K.E., Richardson, T.G., Horta, B.L., Bielinski, S.J., Linneberg, A., Young, K., Argos, M., Dehghan, A., Chasman, D.I., Mook-Kanamori, D.O., Vaidya, D., Petersmann, A., Scott, R.A., Meigs, J.B., Ahluwalia, T.S., Gao, H., Rosendaal, F.R., Chakravarti, A., van Heemst, D., Cox, S.R., Williams, C., Pankow, J., Giulianini, F., Weir, B.S., Jonsson, A.E., Hartwig, F.P., Rohde, R., Ikram, M.A., Homuth, G., Lee, J.H., Deary, I.J., Erzurumluoglu, A.M., Chu, A.Y., Emery, L.S., Franco, O.H., Ong, K.K., Arking, D.E., Loos, R.J.F., Tzoulaki, I., Pattie, A., Timpson, N.J., and Turner, S.T.
- Abstract
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear genes (MT-nDNA). In the CHARGEmtDNA+ Consortium, we studied genetic associations of mtDNA and MT-nDNA associations with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, and HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation and imputation of mtDNA variants was followed by single-variant and gene-based association testing. We report two significant common variants, one in MT-ATP6 associated (p ≤ 5E−04) with WHR and one in the D-loop with glucose. Five rare variants in MT-ATP6, MT-ND5, and MT-ND6 associated with BMI, WHR, or insulin. Gene-based meta-analysis identified MT-ND3 associated with BMI (p ≤ 1E−03). We considered 2,282 MT-nDNA candidate gene associations compiled from online summary results for our traits (20 unique studies with 31 dataset consortia's genome-wide associations [GWASs]). Of these, 109 genes associated (p ≤ 1E−06) with at least 1 of our 7 traits. We assessed regulatory features of variants in the 109 genes, cis- and trans-gene expression regulation, and performed enrichment and protein-protein interactions analyses. Of the identified mtDNA and MT-nDNA genes, 79 associated with adipose measures, 49 with glucose/insulin, 13 with risk for type 2 diabetes, and 18 with cardiovascular disease, indicating for pleiotropic effects with health implications. Additionally, 21 genes related to cholesterol, suggesting additional important roles for the genes identified. Our results suggest that mtDNA and MT-nDNA genes and variants reported make important contributions to glucose and insulin metabolism, adipocyte regulation, diabetes, and cardiovascular disease.
- Published
- 2019
- Full Text
- View/download PDF
18. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus
- Author
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Nielsen, Dahlia, Ehm, M.G., and Weir, B.S.
- Subjects
Genetic disorders -- Research ,Chromosome mapping -- Methods ,Genetic markers -- Usage ,Hardy-Weinberg formula -- Usage ,Population genetics -- Models ,Hemochromatosis -- Genetic aspects ,Linkage (Genetics) -- Research ,Medical statistics -- Standards ,Biological sciences - Abstract
Fine-scale localizing suggestions for a disease-susceptibility locus for a complex disease on the basis of deviations from Hardy-Weinberg equilibrium among affected persons are reviewed and extended. Reasons for need for care in drawing of inferences from marker Hardy-Weinberg disequilibria for disease-susceptibility loci with more than two alleles are considered with a discussion of data related to hereditary hemochromatosis.
- Published
- 1998
19. A comparative study of sibship tests of linkage and/or association
- Author
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Monks, S.A., Kaplan, N.L., and Weir, B.S.
- Subjects
Genetic disorders -- Research ,Population genetics -- Research ,Brothers and sisters -- Genetic aspects ,Familial diseases -- Genetic aspects ,Linkage (Genetics) -- Research ,Medical statistics -- Usage ,Monte Carlo method -- Usage ,Chromosome mapping -- Usage ,Biological sciences - Abstract
An extension of one of three recently developed family-based tests of association and linkage using unaffected siblings as surrogates for untyped parents is proposed. The four tests are then compared using as an example the application to a complex disease for both biallelic and multiallelic markers and for sibships of varying sizes, then looking at availability of some parental data.
- Published
- 1998
20. A Bayesian characterization of Hardy-Weinberg disequilibrium
- Author
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Shoemaker, Jennifer, Painter, Ian, and Weir, B.S.
- Subjects
Bayesian statistical decision theory -- Usage ,Hardy-Weinberg formula -- Research ,Allelomorphism -- Research ,Biological sciences - Abstract
A Bayesian method for determining if there are large departures from independence between pairs of alleles at a locus, Hardy-Weinberg equilibrium (HWE), is presented. We endorse the view that a population will never be exactly in HWE and that there will be occasions when there is a need for an alternative to the usual hypothesis-testing setting. Bayesian methods provide such an alternative, and our approach differs from previous Bayesian treatments in using the disequilibrium and inbreeding coefficient parameterizations. These are easily interpretable but may be less mathematically tractable than other parameterizations. We examined the posterior distributions of our parameters for evidence that departures from HWE were large. For either parameterization, when a conjugate prior was used, the prior probability for small departures was itself small, i.e., the prior was weighted against small departures from independence. We could avoid this uneven weighting by using a step prior which gave equal weighting to both small and large departures from HWE. In most cases, the Bayesian methodology makes it clear that there are not enough data to draw a conclusion.
- Published
- 1998
21. Marker selection for the transmission/disequilibrium test, in recently admixed populations
- Author
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Kaplan, N.L., Martin, E.R., Morris, R.W., and Weir, B.S.
- Subjects
Genetic disorders -- Research ,Chromosome mapping -- Methods ,Linkage (Genetics) -- Statistics ,Allelomorphism -- Statistics ,Genetic markers -- Statistics ,Population genetics -- Statistics ,Medical statistics -- Research ,Biological sciences - Abstract
Results of collapsing a microsatellite into a two-allele marker have been examined for the situation in which two founding populations are assumed for the admixed population with the finding that if random mating exists, typically there is a collapsing for which the power of the transmission/disequilibrium test (TDT) is greater than that for the original microsatellite marker. A method has been developed for finding the best collapsing that has minimal dependence on a genetic disease and that uses estimates either of marker allele frequencies in the two founding populations or of marker allele frequencies in one of the found populatinos and the existing admixed population. The best collapsing is not always that with the largest difference in allele frequencies in the founding populations. An example uses 30 microsatellites in 13 populations involving Utah, French and five African populations.
- Published
- 1998
22. Setting bounds for the likelihood ratio when multiple hypotheses are postulated.
- Author
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Buckleton, John S., Evett, Ian W., and Weir, B.S.
- Subjects
DNA testing -- Methods - Published
- 1998
23. Hardy-Weinberg testing for continuous data
- Author
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McIntyre, Lauren M. and Weir, B.S.
- Subjects
Hardy-Weinberg formula -- Usage ,Population genetics -- Research ,Biological sciences - Abstract
Estimation of allelic and genotypic distributions for continuous data using kernel density estimation is discussed and illustrated for some variable number of tandem repeat data. These kernel density estimates provide a useful representation of data when only some of the many variants at a locus are present in a sample. Two Hardy-Weinberg test procedures are introduced for continuous data: a continuous chi-square test with test statistic [T.sub.CCS] and a test based on Hellinger's distance with test statistic [T.sub.HD]. Simulations are used to compare the powers of these tests to each other and to the powers of a test of intraclass correlation [T.sub.IC], as well as to the power of Fisher's exact test [T.sub.FET] applied to discretized data. Results indicate that the power of [T.sub.CCS] is better than that of [T.sub.HD], but neither is as powerful as [T.sub.FET]. The intraclass correlation test does not perform as well as the other tests examined in this article.
- Published
- 1997
24. The occurrence and significance of epistatic variance for quantitative characters and its measurement in haploids
- Author
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Shaw, A. Jonathan, Weir, B.S., and Shaw, Frank H.
- Subjects
Haploidy -- Research -- Genetic aspects ,Quantitative genetics -- Research ,Moss -- Genetic aspects -- Research ,Biological sciences ,Research ,Genetic aspects - Abstract
It is of fundamental importance in evolutionary genetics to partition the sources of phenotypic variation into environmental and genetic portions. The genetic component can be further partitioned into additive effects [...]
- Published
- 1997
25. DEOXYRIBONUCLEIC ACID | Statistical Analysis
- Author
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Weir, B.S., primary
- Published
- 2000
- Full Text
- View/download PDF
26. New Zealand population at five VNTR loci: validation as databases for forensic identity testing.
- Author
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Hamilton, J.F., Starling, L., Cordiner, S.J., Monahan, D.L., Buckleton, J.S., Chambers, G.K., and Weir, B.S.
- Subjects
DNA testing -- Testing ,Genetic code -- Identification and classification - Published
- 1996
27. DNA on Trial: Genetic Identification and Criminal Justice.
- Author
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Weir, B.S.
- Subjects
DNA on Trial: Genetic Identification and Criminal Justice (Book) -- Book reviews ,Books -- Book reviews - Published
- 1994
28. Estimation of gene flow from F-statistics
- Author
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Cockerham, C. Clark and Weir, B.S.
- Subjects
Population genetics -- Models ,Biological sciences ,Models - Abstract
Abstract. - We present theory clarifying the general behavior of [F.sub.ST]-based and [G.sub.ST]-based estimators of gene flow, and confirm these predictions with simulations. In particular, we use the correlation of [...]
- Published
- 1993
29. Population genetics in the forsenic DNA debate
- Author
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Weir, B.S.
- Subjects
DNA testing -- Laws, regulations and rules ,Forensic genetics -- Methods ,Science and technology ,National Academy of Sciences -- Reports - Abstract
DNA fingerprinting is a potentially powerful technique in the forensic sciences. However, the analysis of variable number of short tandem repeats (VNTRs) is subject to various statistical and population genetic abstractions. Demands for exact or discrete discriminations are rarely, if ever, met. A recent report by the National Academy of Sciences which seeked to resolve some of the controversy over the use of VNTR profiles in forensics has instead generated further debate. The use of two-allele systems, the polymerase chain reaction and analysis of variant repeats in minisatellites may help in resolving these issues.
- Published
- 1992
30. Testing for equality of evolutionary rates
- Author
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Muse, S.V. and Weir, B.S.
- Subjects
Evolution -- Measurement ,Origin of species -- Research ,Biological sciences - Abstract
The likelihood ratio test is superior to variance-based tests for comparing the rates of evolution along the descent pathway leading to two species having different transition and transversion rates. Both tests, however, are at par in case of mutation models based on one parameter. The application of the likelihood ratio test to chloroplast sequences showed more indications of different evolutionary rates of barley than were found through other tests.
- Published
- 1992
31. Independence of VNTR alleles defined as fixed bins
- Author
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Weir, B.S.
- Subjects
Human population genetics -- Research ,Genetic polymorphisms -- Research ,Biological sciences - Abstract
Data at six unlinked variable number of tandem repeats (VNTR) loci for Caucasians, Blacks and Hispanics was analyzed. No correlations between lengths for pairs of VNTR fragments, within or between loci, were found. When the fragments were grouped into discrete 'bins' to facilitate comparisons between genotypes, no disequilibrium was found within the Caucasian data set within and between loci. However, disequilibrium was found for the Black and Hispanic data bases. In the presence of global disequilibrium for a genotype, testing specific for that data base can be substituted.
- Published
- 1992
32. Forensic Genetics
- Author
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Weir, B.S., primary
- Published
- 2019
- Full Text
- View/download PDF
33. On the testing of Hardy-Weinberg proportions and equality of allele frequencies in males and females at biallelic genetic markers
- Author
-
Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, and Weir, B.S.
- Abstract
Standard statistical tests for equality of allele frequencies in males and females and tests for Hardy-Weinberg equilibrium are tightly linked by their assumptions. Tests for equality of allele frequencies assume Hardy-Weinberg equilibrium, whereas the usual chi-square or exact test for Hardy-Weinberg equilibrium assume equality of allele frequencies in the sexes. In this paper, we propose ways to break this interdependence in assumptions of the two tests by proposing an omnibus exact test that can test both hypotheses jointly, as well as a likelihood ratio approach that permits these phenomena to be tested both jointly and separately. The tests are illustrated with data from the 1000 Genomes project., Peer Reviewed, Postprint (author's final draft)
- Published
- 2018
34. Multi-allelic exact tests for Hardy-Weinberg equilibrium that account for gender
- Author
-
Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, and Weir, B.S.
- Abstract
Statistical tests for Hardy–Weinberg equilibrium are important elementary tools in genetic data analysis. X-chromosomal variants have long been tested by applying autosomal test procedures to females only, and gender is usually not considered when testing autosomal variants for equilibrium. Recently, we proposed specific Xchromosomal exact test procedures for bi-allelic variants that include the hemizygous males, as well as autosomal tests that consider gender. In this study, we present the extension of the previous work for variants with multiple alleles. A full enumeration algorithm is used for the exact calculations of tri-allelic variants. For variants with many alternate alleles, we use a permutation test. Some empirical examples with data from the 1,000 genomes project are discussed., Peer Reviewed, Postprint (published version)
- Published
- 2018
35. Sex-specific longevity associations defined by Tyrosine Hydroxylase–Insulin–Insulin Growth Factor 2 haplotypes on the 11p15.5 chromosomal region
- Author
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De Luca, M, Rose, G, Bonafè, M, Garasto, S, Greco, V, Weir, B.S, Franceschi, C, and De Benedictis, G
- Published
- 2001
- Full Text
- View/download PDF
36. Population genetics of DNA profiles.
- Author
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Weir, B.S. and Hill, W.G.
- Subjects
Population genetics -- Analysis ,DNA testing -- Analysis ,Forensic genetics -- Analysis - Published
- 1993
37. Matching and binning DNA fragments in forensic science.
- Author
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Weir, B.S. and Gaut, B.S.
- Subjects
DNA testing -- Methods ,Identification -- Methods ,Semen -- Testing - Published
- 1993
38. Fungal Planet description sheets: 558–624
- Author
-
Crous, P.W., Wingfield, M.J., Burgess, T.I., Hardy, G.E.St.J., Barber, P.A., Alvarado, P., Barnes, C.W., Buchanan, P.K., Heykoop, M., Moreno, G., Thangavel, R., Van der spuy, S., Barili, A., Barrett, S., Cacciola, S.O., Cano-Lira, J.F., Crane, C., Decock, C., Gibertoni, T.B., Guarro, J., Guevara-Suarez, M., Hubka, V., Kolařík, M., Lira, C.R.S., Ordoñez, M.E., Padamsee, M., Ryvarden, L., Soares, A.M., Stchigel, A.M., Sutton, D.A., Vizzini, A., Weir, B.S., Acharya, K., Aloi, F., Baseia, I.G., Blanchette, R.A., Bordallo, J.J., Bratek, Z., Butler, T., Cano-Canals, J., Carlavilla, J.R., Chander, J., Cheewangkoon, R., Cruz, R.H.S.F., Da silva, M., Dutta, A.K., Ercole, E., Escobio, V., Esteve-Raventós, F., Flores, J.A., Gené, J., Góis, J.S., Haines, L., Held, B.W., Horta jung, M., Hosaka, K., Jung, T., Jurjević, Ž., Kautman, V., Kautmanova, I., Kiyashko, A.A., Kozanek, M., Kubátová, A., Lafourcade, M., La spada, F., Latha, K.P.D., Madrid, H., Malysheva, E.F., Manimohan, P., Manjón, J.L., Martín, M.P., Mata, M., Merényi, Z., Morte, A., Nagy, I., Normand, A.-C., Paloi, S., Pattison, N., Pawłowska, J., Pereira, O.L., Petterson, M.E., Picillo, B., Raj, K.N.A., Crous, P.W., Wingfield, M.J., Burgess, T.I., Hardy, G.E.St.J., Barber, P.A., Alvarado, P., Barnes, C.W., Buchanan, P.K., Heykoop, M., Moreno, G., Thangavel, R., Van der spuy, S., Barili, A., Barrett, S., Cacciola, S.O., Cano-Lira, J.F., Crane, C., Decock, C., Gibertoni, T.B., Guarro, J., Guevara-Suarez, M., Hubka, V., Kolařík, M., Lira, C.R.S., Ordoñez, M.E., Padamsee, M., Ryvarden, L., Soares, A.M., Stchigel, A.M., Sutton, D.A., Vizzini, A., Weir, B.S., Acharya, K., Aloi, F., Baseia, I.G., Blanchette, R.A., Bordallo, J.J., Bratek, Z., Butler, T., Cano-Canals, J., Carlavilla, J.R., Chander, J., Cheewangkoon, R., Cruz, R.H.S.F., Da silva, M., Dutta, A.K., Ercole, E., Escobio, V., Esteve-Raventós, F., Flores, J.A., Gené, J., Góis, J.S., Haines, L., Held, B.W., Horta jung, M., Hosaka, K., Jung, T., Jurjević, Ž., Kautman, V., Kautmanova, I., Kiyashko, A.A., Kozanek, M., Kubátová, A., Lafourcade, M., La spada, F., Latha, K.P.D., Madrid, H., Malysheva, E.F., Manimohan, P., Manjón, J.L., Martín, M.P., Mata, M., Merényi, Z., Morte, A., Nagy, I., Normand, A.-C., Paloi, S., Pattison, N., Pawłowska, J., Pereira, O.L., Petterson, M.E., Picillo, B., and Raj, K.N.A.
- Abstract
Novel species of fungi described in this study include those from various countries as follows: Australia: Banksiophoma australiensis (incl. Banksiophoma gen. nov.) on Banksia coccinea, Davidiellomyces australiensis (incl. Davidiellomyces gen. nov.) on Cyperaceae, Didymocyrtis banksiae on Banksia sessilis var. cygnorum, Disculoides calophyllae on Corymbia calophylla, Harknessia banksiae on Banksia sessilis, Harknessia banksiae-repens on Banksia repens, Harknessia banksiigena on Banksia sessilis var. cygnorum, Harknessia communis on Podocarpus sp., Harknessia platyphyllae on Eucalyptus platyphylla, Myrtacremonium eucalypti (incl. Myrtacremonium gen. nov.) on Eucalyptus globulus, Myrtapenidiella balenae on Eucalyptus sp., Myrtapenidiella eucalyptigena on Eucalyptus sp., Myrtapenidiella pleurocarpae on Eucalyptus pleurocarpa, Paraconiothyrium hakeae on Hakea sp., Paraphaeosphaeria xanthorrhoeae on Xanthorrhoea sp., Parateratosphaeria stirlingiae on Stirlingia sp., Perthomyces podocarpi (incl. Perthomyces gen. nov.) on Podocarpus sp., Readeriella ellipsoidea on Eucalyptus sp., Rosellinia australiensis on Banksia grandis, Tiarosporella corymbiae on Corymbia calophylla, Verrucoconiothyrium eucalyptigenum on Eucalyptus sp., Zasmidium commune on Xanthorrhoea sp., and Zasmidium podocarpi on Podocarpus sp. Brazil: Cyathus aurantogriseocarpus on decaying wood, Perenniporia brasiliensis on decayed wood, Perenniporia paraguyanensis on decayed wood, and Pseudocercospora leandrae-fragilis on Leandra fragilis. Chile: Phialocephala cladophialophoroides on human toe nail. Costa Rica: Psathyrella striatoannulata from soil. Czech Republic: Myotisia cremea (incl. Myotisia gen. nov.) on bat droppings. Ecuador: Humidicutis dictiocephala from soil, Hygrocybe macrosiparia from soil, Hygrocybe sangayensis from soil, and Polycephalomyces onorei on stem of Etlingera sp. France: Westerdykella centenaria from soil. Hungary: Tuber magentipunctatum from soil. India: Ganoderma mizoramense on decayi
- Published
- 2017
39. Fungal Planet description sheets: 558–624
- Author
-
Crous, P.W. (Pedro Willem), Wingfield, M.J., Burgess, T.I., Hardy, G.E.St.J., Barber, P.A., Alvarado, P., Barnes, C.W., Buchanan, P.K., Heykoop, M., Moreno, G., Vabeikhokhei, J.M.C., Diepeningen, A.D. van, Hoa, N. van, Tri, M. van, Wiederhold, N.P., Wrzosek, (M. ), Zothanzama, (J. ), Groenewald, (J.Z. ), Thangavel, R., Spuy, S. van der, Barili, A., Barrett, S., Cacciola, S.O., Cano-Lira, J.F., Crane, C., Decock, C.A., Gibertoni, T.B., Guarro, J., Guevara-Suarez, M., Hubka, V., Kolařík, M., Lira, (C.R.S. ), Ordoñez, M.E., Padamsee, M., Ryvarden, L., Soares, A.M., Stchigel, A.M., Sutton, D.A., Vizzini, A., Weir, B.S., Acharya, K., Aloi, F., Baseia, I.G., Blanchette, R.A., Bordallo, J.J., Bratek, Z., Butler, T., Cano-Canals, J., Carlavilla, J.R., Chander, J., Cheewangkoon, R., Cruz, R.H.S.F., Silva, M. da, Dutta, A.K., Ercole, E., Escobio, V., Esteve-Raventós, F., Flores, F.A., Gené, J., Góis, J.S., Haines, L., Held, B.W., Horta Jung, M., Hosaka, K., Jung, J., Jurjević, Ž., Kautman, (V. ), Kautmanova, (I. ), Kiyashko, A.A., Kozanek, M., Kubátová, A., Lafourcade, M., Spada, F. La, Latha, K.P.D., Madrid, (H. ), Malysheva, (E.F. ), Manimohan, (P. ), Manjón, (J.L. ), Martín, (M.P. ), Mata, (M. ), Merényi, (Z. ), Morte, A., Nagy, I., Normand, (A.-C. ), Paloi, S., Pattison, N., Pawłowska, J., Pereira, O.L., Petterson, M.E., Picillo, (B. ), Raj, (K.N.A. ), Roberts, (A. ), Rodríguez, A., Rodríguez-Campo, F.J., Romański, (M. ), Ruszkiewicz-Michalska, M., Scanu, B., Schena, L., Semelbauer, M., Sharma, R., Shouche, Y.S., Silva, V., Staniaszek-Kik, M., Stielow, J.B., Tapia, C., Taylor, (P.W.J. ), Toome-Heller, M., Crous, P.W. (Pedro Willem), Wingfield, M.J., Burgess, T.I., Hardy, G.E.St.J., Barber, P.A., Alvarado, P., Barnes, C.W., Buchanan, P.K., Heykoop, M., Moreno, G., Vabeikhokhei, J.M.C., Diepeningen, A.D. van, Hoa, N. van, Tri, M. van, Wiederhold, N.P., Wrzosek, (M. ), Zothanzama, (J. ), Groenewald, (J.Z. ), Thangavel, R., Spuy, S. van der, Barili, A., Barrett, S., Cacciola, S.O., Cano-Lira, J.F., Crane, C., Decock, C.A., Gibertoni, T.B., Guarro, J., Guevara-Suarez, M., Hubka, V., Kolařík, M., Lira, (C.R.S. ), Ordoñez, M.E., Padamsee, M., Ryvarden, L., Soares, A.M., Stchigel, A.M., Sutton, D.A., Vizzini, A., Weir, B.S., Acharya, K., Aloi, F., Baseia, I.G., Blanchette, R.A., Bordallo, J.J., Bratek, Z., Butler, T., Cano-Canals, J., Carlavilla, J.R., Chander, J., Cheewangkoon, R., Cruz, R.H.S.F., Silva, M. da, Dutta, A.K., Ercole, E., Escobio, V., Esteve-Raventós, F., Flores, F.A., Gené, J., Góis, J.S., Haines, L., Held, B.W., Horta Jung, M., Hosaka, K., Jung, J., Jurjević, Ž., Kautman, (V. ), Kautmanova, (I. ), Kiyashko, A.A., Kozanek, M., Kubátová, A., Lafourcade, M., Spada, F. La, Latha, K.P.D., Madrid, (H. ), Malysheva, (E.F. ), Manimohan, (P. ), Manjón, (J.L. ), Martín, (M.P. ), Mata, (M. ), Merényi, (Z. ), Morte, A., Nagy, I., Normand, (A.-C. ), Paloi, S., Pattison, N., Pawłowska, J., Pereira, O.L., Petterson, M.E., Picillo, (B. ), Raj, (K.N.A. ), Roberts, (A. ), Rodríguez, A., Rodríguez-Campo, F.J., Romański, (M. ), Ruszkiewicz-Michalska, M., Scanu, B., Schena, L., Semelbauer, M., Sharma, R., Shouche, Y.S., Silva, V., Staniaszek-Kik, M., Stielow, J.B., Tapia, C., Taylor, (P.W.J. ), and Toome-Heller, M.
- Abstract
Novel species of fungi described in this study include those from various countries as follows: Australia: Banksiophoma australiensis (incl. Banksiophoma gen. nov.) on Banksia coccinea, Davidiellomyces australiensis (incl. Davidiellomyces gen. nov.) on Cyperaceae, Didymocyrtis banksiae on Banksia sessilis var. cygnorum, Disculoides calophyllae on Corymbia calophylla, Harknessia banksiae on Banksia sessilis, Harknessia banksiae-repens on Banksia repens, Harknessia banksiigena on Banksia sessilis var. cygnorum, Harknessia communis on Podocarpus sp., Harknessia platyphyllae on Eucalyptus platyphylla, Myrtacremonium eucalypti (incl. Myrtacremonium gen. nov.) on Eucalyptus globulus, Myrtapenidiella balenae on Eucalyptus sp., Myrtapenidiella eucalyptigena on Eucalyptus sp., Myrtapenidiella pleurocarpae on Eucalyptus pleurocarpa, Paraconiothyrium hakeae on Hakea sp., Paraphaeosphaeria xanthorrhoeae on Xanthorrhoea sp., Parateratosphaeria stirlingiae on Stirlingia sp., Perthomyces podocarpi (incl. Perthomyces gen. nov.) on Podocarpus sp., Readeriella ellipsoidea on Eucalyptus sp., Rosellinia australiensis on Banksia grandis, Tiarosporella corymbiae on Corymbia calophylla, Verrucoconiothyrium eucalyptigenum on Eucalyptus sp., Zasmidium commune on Xanthorrhoea sp., and Zasmidium podocarpi on Podocarpus sp. Brazil: Cyathus aurantogriseocarpus on decaying wood, Perenniporia brasiliensis on decayed wood, Perenniporia paraguyanensis on decayed wood, and Pseudocercospora leandrae-fragilis on Leandra fragilis. Chile: Phialocephala cladophialophoroides on human toe nail. Costa Rica: Psathyrella striatoannulata from soil. Czech Republic: Myotisia cremea (incl. Myotisia gen. nov.) on bat droppings. Ecuador: Humidicutis dictiocephala from soil, Hygrocybe macrosiparia from soil, Hygrocybe sangayensis from soil, and Polycephalomyces onorei on stem of Etlingera sp. France: Westerdykella centenaria from soil. Hungary: Tuber magentipunctatum from soil. India: Ganoderma mizoramense on decayi
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- 2017
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40. Phylogenetic relationships of eight new Dacrymycetes collected from New Zealand
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Shirouzu, T., Hosaka, K., Nam, (K.-O. ), Weir, B.S., Johnston, P.R., Hosoya, T., Shirouzu, T., Hosaka, K., Nam, (K.-O. ), Weir, B.S., Johnston, P.R., and Hosoya, T.
- Abstract
Dacrymycetes, sister to Agaricomycetes, is a noteworthy lineage for studying the evolution of wooddecaying basidiomycetes; however, its species diversity and phylogeny are largely unknown. Species of Dacrymycetes previously used in molecular phylogenetic analyses are mainly derived from the Northern Hemisphere, thus insufficient knowledge exists concerning the Southern Hemisphere lineages. In this study, we investigated the species diversity of Dacrymycetes in New Zealand. We found 11 previously described species, and eight new species which were described here: Calocera pedicellata, Dacrymyces longistipitatus, D. pachysporus, D. stenosporus, D. parastenosporus, D. cylindricus, D. citrinus, and D. cyrtosporus. These eight newly described species and seven of the known ones, namely, Calocera fusca, C. cf. guepinioides, C. lutea, Dacrymyces flabelliformis, D. intermedius, D. subantarcticensis, and Heterotextus miltinus, have rarely or never been recorded from the Northern Hemisphere. In a molecular-based phylogeny, these New Zealand strains were scattered throughout the Dacrymycetaceae clade. Sequences obtained from specimens morphologically matching C. guepinioides were separated into three distant clades. Because no obvious morphological differences could be discerned between the specimens in each clade and no sequence exists from the type specimen, a C. guepinioides s.str. clade could not be determined. This survey of dacrymycetous species in the Southern Hemisphere has increased taxon sampling for phylogenetic analyses that can serve as a basis for the construction of a stable classification of Dacrymycetes.
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- 2017
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41. A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data
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Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Jain, Deepti, Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Jain, Deepti, and Weir, B.S.
- Abstract
Statistical tests for Hardy–Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal and X-chromosomal variants. We find that the rate of disequilibrium largely exceeds what might be expected by chance alone for all chromosomes. Observed disequilibrium is, in about 60% of the cases, due to heterozygote excess. We suggest that most excess disequilibrium can be explained by sequencing problems, and hypothesize mechanisms that can explain exceptional heterozygosities. We report higher rates of disequilibrium for the MHC region on chromosome 6, regions flanking centromeres and p-arms of acrocentric chromosomes. We also detected long-range haplotypes and areas with incidental high disequilibrium. We report disequilibrium to be related to read depth, with variants having extreme read depths being more likely to be out of equilibrium. Disequilibrium rates were found to be 11 times higher in segmental duplications and simple tandem repeat regions. The variants with significant disequilibrium are seen to be concentrated in these areas. For next generation sequence data, Hardy–Weinberg disequilibrium seems to be a major indicator for copy number variation., Peer Reviewed, Postprint (published version)
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- 2017
42. Phylogenetic relationships of eight newDacrymycetes collected from new Zealand
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Shirouzu, T., primary, Hosaka, K., additional, Nam, K.-O., additional, Weir, B.S., additional, Johnston, P.R., additional, and Hosoya, T., additional
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- 2017
- Full Text
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43. Fungal Planet description sheets: 558–624
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Crous, P.W., primary, Wingfield, M.J., additional, Burgess, T.I., additional, Hardy, G.E.ST.J., additional, Barber, P.A., additional, Alvarado, P., additional, Barnes, C.W., additional, Buchanan, P.K., additional, Heykoop, M., additional, Moreno, G., additional, Thangavel, R., additional, Van der spuy, S., additional, Barili, A., additional, Barrett, S., additional, Cacciola, S.O., additional, Cano-Lira, J.F., additional, Crane, C., additional, Decock, C., additional, Gibertoni, T.B., additional, Guarro, J., additional, Guevara-Suarez, M., additional, Hubka, V., additional, Kolařík, M., additional, Lira, C.R.S., additional, Ordoñez, M.E., additional, Padamsee, M., additional, Ryvarden, L., additional, Soares, A.M., additional, Stchigel, A.M., additional, Sutton, D.A., additional, Vizzini, A., additional, Weir, B.S., additional, Acharya, K., additional, Aloi, F., additional, Baseia, I.G., additional, Blanchette, R.A., additional, Bordallo, J.J., additional, Bratek, Z., additional, Butler, T., additional, Cano-Canals, J., additional, Carlavilla, J.R., additional, Chander, J., additional, Cheewangkoon, R., additional, Cruz, R.H.S.F., additional, Da silva, M., additional, Dutta, A.K., additional, Ercole, E., additional, Escobio, V., additional, Esteve-Raventós, F., additional, Flores, J.A., additional, Gené, J., additional, Góis, J.S., additional, Haines, L., additional, Held, B.W., additional, Horta jung, M., additional, Hosaka, K., additional, Jung, T., additional, Jurjević, Ž., additional, Kautman, V., additional, Kautmanova, I., additional, Kiyashko, A.A., additional, Kozanek, M., additional, Kubátová, A., additional, Lafourcade, M., additional, La spada, F., additional, Latha, K.P.D., additional, Madrid, H., additional, Malysheva, E.F., additional, Manimohan, P., additional, Manjón, J.L., additional, Martín, M.P., additional, Mata, M., additional, Merényi, Z., additional, Morte, A., additional, Nagy, I., additional, Normand, A.-C., additional, Paloi, S., additional, Pattison, N., additional, Pawłowska, J., additional, Pereira, O.L., additional, Petterson, M.E., additional, Picillo, B., additional, Raj, K.N.A., additional, Roberts, A., additional, Rodríguez, A., additional, Rodríguez-Campo, F.J., additional, Romański, M., additional, Ruszkiewicz-Michalska, M., additional, Scanu, B., additional, Schena, L., additional, Semelbauer, M., additional, Sharma, R., additional, Shouche, Y.S., additional, Silva, V., additional, Staniaszek-Kik, M., additional, Stielow, J.B., additional, Tapia, C., additional, Taylor, P.W.J., additional, Toome-Heller, M., additional, Vabeikhokhei, J.M.C., additional, van Diepeningen, A.D., additional, Van Hoa, N., additional, Van Tri, M., additional, Wiederhold, N.P., additional, Wrzosek, M., additional, Zothanzama, J., additional, and Groenewald, J.Z., additional
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- 2017
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44. Unravelling Colletotrichum species associated with Camellia: employing ApMat and GS loci to resolve species in the C. gloeosporioides complex
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Liu, F., Weir, B.S., Damm, U., Crous, Pedro Willem, Wang, Y., Liu, B., Wang, M., Zhang, M., Cai, L., and Naturalis journals & series
- Subjects
morphology ,Colletotrichum ,food and beverages ,Camellia ,tea plants ,phylogeny - Abstract
"We investigated the phylogenetic diversity of 144 Colletotrichum isolates associated with symptomatic and asymptomatic tissues of Camellia sinensis and other Camellia spp. from seven provinces in China (Fujian, Guizhou, Henan, Jiangxi, Sichuan, Yunnan, Zhejiang), and seven isolates obtained from other countries, including Indonesia, UK, and the USA. Based on multi-locus (ACT, ApMat, CAL, GAPDH, GS, ITS, TUB2) phylogenetic analyses and phenotypic characters, 11 species were distinguished, including nine well-characterised species (C. alienum, C. boninense, C. camelliae, C. cliviae, C. fioriniae, C. fructicola, C. gloeosporioides, C. karstii, C. siamense), and two novel species (C. henanense and C. jiangxiense). Of these, C. camelliae proved to be the most dominant and probably host specific taxon occurring on Camellia. An epitype is also designated for the latter species in this study. Colletotrichum jiangxiense is shown to be phylogenetically closely related to the coffee berry pathogen C. kahawae subsp. kahawae. Pathogenicity tests and the pairwise homoplasy index test suggest that C. jiangxiense and C. kahawae subsp. kahawae are two independent species. This study represents the first report of C. alienum and C. cliviae occurring on Camellia sinensis. In addition, our study demonstrated that the combined use of the loci ApMat and GS in a phylogenetic analysis is able to resolve all currently accepted species in the C. gloeosporioides species complex."
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- 2015
45. Colletotrichum species in Australia
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Shivas, R.G., Tan, Y.P., Edwards, J., Dinh, Q., Maxwell, A., Andjic, V., Liberato, J.R., Anderson, C., Beasley, D.R., Bransgrove, K., Coates, L.M., Cowan, K., Daniel, R., Dean, J.R., Lomavatu, M.F., Mercado-Escueta, D., Mitchell, R.W., Thangavel, R., Tran-Nguyen, L.T.T., Weir, B.S., Shivas, R.G., Tan, Y.P., Edwards, J., Dinh, Q., Maxwell, A., Andjic, V., Liberato, J.R., Anderson, C., Beasley, D.R., Bransgrove, K., Coates, L.M., Cowan, K., Daniel, R., Dean, J.R., Lomavatu, M.F., Mercado-Escueta, D., Mitchell, R.W., Thangavel, R., Tran-Nguyen, L.T.T., and Weir, B.S.
- Abstract
Forty-four species of Colletotrichum are confirmed as present in Australia based on DNA sequencing analyses. Many of these species were identified directly as a result of two workshops organised by the Subcommittee on Plant Health Diagnostics in Australia in 2015 that covered morphological and molecular approaches to identification of Colletotrichum. There are several other species of Colletotrichum reported from Australia that remain to be substantiated by DNA sequence-based methods. This body of work aims to provide a basis from which to critically examine a number of isolates of Colletotrichum deposited in Australian culture collections.
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- 2016
46. Testing for Hardy–Weinberg equilibrium at biallelic genetic markers on the X chromosome
- Author
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Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, and Weir, B.S.
- Abstract
Testing genetic markers for Hardy–Weinberg equilibrium (HWE) is an important tool for detecting genotyping errors in large-scale genotyping studies. For markers at the X chromosome, typically the ¿2 or exact test is applied to the females only, and the hemizygous males are considered to be uninformative. In this paper we show that the males are relevant, because a difference in allele frequency between males and females may indicate HWE not to hold. The testing of markers on the X chromosome has received little attention, and in this paper we lay down the foundation for testing biallelic X-chromosomal markers for HWE. We develop four frequentist statistical test procedures for X-linked markers that take both males and females into account: the ¿2 test, likelihood ratio test, exact test and permutation test. Exact tests that include males are shown to have a better Type I error rate. Empirical data from the GENEVA project on venous thromboembolism is used to illustrate the proposed tests. Results obtained with the new tests differ substantially from tests that are based on female genotype counts only. The new tests detect differences in allele frequencies and seem able to uncover additional genotyping error that would have gone unnoticed in HWE tests based on females only, Peer Reviewed, Postprint (published version)
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- 2016
47. Testing the association of quantitative traits and haplotypes considering treatment effects
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Meng, Z., Zaykin, D.V., Ehm, M.G., and Weir, B.S.
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Pharmacogenetics -- Research ,Human genetics -- Research ,Haplotypes -- Research ,Genetic markers -- Research ,Biological sciences - Published
- 2001
48. Determining success of haplotyping algorithms using densely mapped genomic regions
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Zaykin, D.V., Ehm, M.G., and Weir, B.S.
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Human genetics -- Research ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
49. Affected Sib Pair Tests in Inbred Populations
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Liu, W. and Weir, B.S.
- Subjects
Human genetics -- Research ,Inbreeding -- Genetic aspects ,Linkage (Genetics) -- Physiological aspects ,Biological sciences - Published
- 2001
50. Exact inference for Hardy-Weinberg proportions with missing genotypes: single and multiple imputation
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Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Nelson, S., Gogarten, S.M., Weir, B.S., Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. COSDA-UPC - COmpositional and Spatial Data Analysis, Graffelman, Jan, Nelson, S., Gogarten, S.M., and Weir, B.S.
- Abstract
This paper addresses the issue of exact-test based statistical inference for Hardy-Weinberg equilibrium in the presence of missing genotype data. Missing genotypes often are discarded when markers are tested for Hardy-Weinberg equilibrium, which can lead to bias in the statistical inference about equilibrium. Single and multiple imputation can improve inference on equilibrium. We develop tests for equilibrium in the presence of missingness by using both inbreeding coefficients (or, equivalently, ¿2 statistics) and exact p-values. The analysis of a set of markers with a high missing rate from the GENEVA project on prematurity shows that exact inference on equilibrium can be altered considerably when missingness is taken into account. For markers with a high missing rate (>5%), we found that both single and multiple imputation tend to diminish evidence for Hardy-Weinberg disequilibrium. Depending on the imputation method used, 6-13% of the test results changed qualitatively at the 5% leve, Postprint (published version)
- Published
- 2015
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