259 results on '"Halldorsson, Bjarni V."'
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2. Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
3. Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
4. The correlation between CpG methylation and gene expression is driven by sequence variants
5. Sequence variants influencing the regulation of serum IgG subclass levels
6. A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes
7. Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination
8. A partial loss-of-function variant in STAT6 protects against type 2 asthma
9. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
10. Large-scale plasma proteomics comparisons through genetics and disease associations
11. Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations
12. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria
13. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
14. Sequence variants affecting the genome-wide rate of germline microsatellite mutations
15. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
16. Complex effects of sequence variants on lipid levels and coronary artery disease
17. The sequences of 150,119 genomes in the UK Biobank
18. HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2
19. Large-scale integration of the plasma proteome with genetics and disease
20. Max Point-Tolerance Graphs
21. PopIns: population-scale detection of novel sequence insertions
22. Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming
23. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
24. Differences between germline genomes of monozygotic twins
25. Sequence variants influencing the regulation of serum IgG subclass levels
26. Variants at the Interleukin 1 Gene Locus and Pericarditis
27. GGTyper: genotyping complex structural variants using short-read sequencing data
28. Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly
29. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
30. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis
31. Characterizing mutagenic effects of recombination through a sequence-level genetic map
32. The nature of nurture : Effects of parental genotypes
33. Homozygosity for a stop-gain variant in CCDC201causes primary ovarian insufficiency
34. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank
35. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
36. Multiple transmissions of de novo mutations in families
37. Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
38. NCOurd: modelling length distributions of NCO events and gene conversion tracts
39. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
40. GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
41. Identification of sequence variants influencing immunoglobulin levels
42. Data from Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk
43. Clinical decision support system for the management of osteoporosis compared to NOGG guidelines and an osteology specialist: a validation pilot study
44. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits
45. Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation
46. Parental influence on human germline de novo mutations in 1,548 trios from Iceland
47. Large-scale comparison of immunoassay- and aptamer-based plasma proteomics through genetics and disease
48. Author Correction: The rate of meiotic gene conversion varies by sex and age
49. Additional file 2 of Ratatosk: hybrid error correction of long reads enables accurate variant calling and assembly
50. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy
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