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4 results on '"Bloch, J. (Jocelyne)"'

1. Genome-wide DNA methylation detection by MethylCap-seq and Infinium HumanMethylation450 BeadChips: An independent large-scale comparison

Author

Meyer, T. (Thorsten), Bady, P. (Pierre), Trooskens, G. (Geert), Kurscheid, S. (Sebastian), Bloch, J. (Jocelyne), Kros, J.M. (Johan), Hainfellner, J.A. (Johannes), Stupp, R. (Roger), Delorenzi, M. (Mauro), Hegi, M.E. (Monika), Criekinge, W. (Wim) van, Meyer, T. (Thorsten), Bady, P. (Pierre), Trooskens, G. (Geert), Kurscheid, S. (Sebastian), Bloch, J. (Jocelyne), Kros, J.M. (Johan), Hainfellner, J.A. (Johannes), Stupp, R. (Roger), Delorenzi, M. (Mauro), Hegi, M.E. (Monika), and Criekinge, W. (Wim) van

Abstract

Two cost-efficient genome-scale methodologies to assess DNA-methylation are MethylCap-seq and Illumina's Infinium HumanMethylation450 BeadChips (HM450). Objective information regarding the best-suited methodology for a specific research question is scant. Therefore, we performed a largescale evaluation on a set of 70 brain tissue samples, i.e. 65 glioblastoma and 5 non-tumoral tissues. As MethylCap-seq coverages were limited, we focused on the inherent capacity of the methodology to detect methylated loci rather than a quantitative analysis. MethylCap-seq and HM450 data were dichotomized and performances were compared using a gold standard free Bayesian modelling procedure. While conditional specificity was adequate for both approaches, conditional sensitivity was systematically higher for HM450. In addition, genome-wide characteristics were compared, revealing that HM450 probes identified substantially fewer regions compared to MethylCap-seq. Although results indicated that the latter method can detect more potentially relevant DNAmethylation, this did not translate into the discovery of more differentially methylated loci between tumours and controls compared to HM450. Our results therefore indicate that both methodologies are complementary, with a higher sensitivity for HM450 and a far larger genome-wide coverage for MethylCap-seq, but also that a more comprehensive character does not automatically imply more significant results in biomarker studies.

Published
2015
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2. Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

Author

McGrath, L.M., Yu, D. (D.), Marshall, C.R. (Christian), Davis, L.K. (Lea), Thiruvahindrapuram, B. (Bhooma), Li, B. (Bingbin), Cappi, C. (Carolina), Gerber, G. (Gloria), Wolf, A. (Anneke) de, Schroeder, F.A. (Frederick), Osiecki, L. (Lisa), O'Dushlaine, C. (Colm), Kirby, A. (Andrew), Illmann, C. (Cornelia), Haddad, S. (Stephen), Gallagher, P. (Patience), Fagerness, J. (Jesen), Barr, C.L. (Cathy), Bellodi, L. (Laura), Benarroch, F. (Fortu), Bienvenu, O.J. (Oscar), Black, D.W. (Donald), Bloch, J. (Jocelyne), Bruun, R.D. (Ruth), Budman, C.L. (Cathy), Camarena, B. (Beatriz), Cath, D. (Daniëlle), Cavallini, M.C. (Maria), Chouinard, S., Coric, V. (Vladimir), Cullen, C., Delorme, R. (Richard), Denys, D.A.J.P. (Damiaan), Derks, E.M. (Eske), Dion, Y. (Yves), Rosário, M.C. (Maria), Eapen, C.E. (Chundamannil Eapen), Evans, P., Falkai, P. (Peter), Fernandez, T.V. (Thomas), Garrido, H. (Helena), Geller, D. (Daniel), Grabe, H.J. (Hans Jörgen), Grados, M. (Marco), Greenberg, B.D. (Benjamin), Gross-Tsur, V. (Varda), Grünblatt, E. (Edna), Heiman, M.L. (Mark), Hemmings, S.M.J. (Sian), Herrera, L.D. (Luis), Hounie, A.G. (Ana), Jankovic, J. (Joseph), Kennedy, J.L., King, R.A., Kurlan, R., Lanzagorta, N. (Nuria), Leboyer, M. (Marion), Leckman, J.F., Lennertz, L. (Leonhard), Lochner, C. (Christine), Lowe, T.L. (Thomas), Lyon, H.N. (Helen), MacCiardi, F. (Fabio), Maier, W. (Wolfgang), McCracken, J.T. (James), McMahon, W.M. (William), Murphy, D.L. (Dennis), Naarden, A.L. (Allan), Nurmi, E. (Erika), Pakstis, A.J., Pato, C. (Carlos), Piacentini, J. (John), Pittenger, C. (Christopher), Pollak, M.N. (Michael), Reus, V.I. (Victor), Richter, M.A. (Margaret), Riddle, M. (Mark), Robertson, M.M., Rosenberg, D. (David), Rouleau, G.A., Ruhrmann, S. (Stephan), Sampaio, A.S. (Aline), Samuels, J. (Jonathan), Sandor, P. (Paul), Sheppard, B. (Brooke), Singer, H.S. (Harvey), Smit, J.H. (Jan), Stein, D.J. (Dan), Tischfield, J.A. (Jay), Vallada, H. (Homero), Veenstra-Vanderweele, J. (Jeremy), Walitza, S. (Susanne), Wang, Y. (Ying), Wendland, A. (Annika), Shugart, Y.Y., Miguel, E.C. (Euripedes), Nicolini, H. (Humberto), Oostra, B.A. (Ben), Moessner, R. (Rainald), Wagner, M. (Michael), Ruiz-Linares, A. (Andres), Heutink, P. (Peter), Nestadt, G. (Gerald), Freimer, N.B. (Nelson), Petryshen, T.L. (Tracey), Posthuma, D. (Danielle), Jenike, M.A. (Michael), Cox, N.J. (Nancy), Hanna, G.L. (Gregory), Brentani, H. (Helena), Scherer, S.W. (Stephen), Arnold, P.D. (Paul), Stewart, S.E., Mathews, C., Knowles, J.A. (James A), Cook, E.H. (Edwin), Pauls, D.L. (David), Wang, K. (Kai), Scharf, J.M., Neale, B.M. (Benjamin), McGrath, L.M., Yu, D. (D.), Marshall, C.R. (Christian), Davis, L.K. (Lea), Thiruvahindrapuram, B. (Bhooma), Li, B. (Bingbin), Cappi, C. (Carolina), Gerber, G. (Gloria), Wolf, A. (Anneke) de, Schroeder, F.A. (Frederick), Osiecki, L. (Lisa), O'Dushlaine, C. (Colm), Kirby, A. (Andrew), Illmann, C. (Cornelia), Haddad, S. (Stephen), Gallagher, P. (Patience), Fagerness, J. (Jesen), Barr, C.L. (Cathy), Bellodi, L. (Laura), Benarroch, F. (Fortu), Bienvenu, O.J. (Oscar), Black, D.W. (Donald), Bloch, J. (Jocelyne), Bruun, R.D. (Ruth), Budman, C.L. (Cathy), Camarena, B. (Beatriz), Cath, D. (Daniëlle), Cavallini, M.C. (Maria), Chouinard, S., Coric, V. (Vladimir), Cullen, C., Delorme, R. (Richard), Denys, D.A.J.P. (Damiaan), Derks, E.M. (Eske), Dion, Y. (Yves), Rosário, M.C. (Maria), Eapen, C.E. (Chundamannil Eapen), Evans, P., Falkai, P. (Peter), Fernandez, T.V. (Thomas), Garrido, H. (Helena), Geller, D. (Daniel), Grabe, H.J. (Hans Jörgen), Grados, M. (Marco), Greenberg, B.D. (Benjamin), Gross-Tsur, V. (Varda), Grünblatt, E. (Edna), Heiman, M.L. (Mark), Hemmings, S.M.J. (Sian), Herrera, L.D. (Luis), Hounie, A.G. (Ana), Jankovic, J. (Joseph), Kennedy, J.L., King, R.A., Kurlan, R., Lanzagorta, N. (Nuria), Leboyer, M. (Marion), Leckman, J.F., Lennertz, L. (Leonhard), Lochner, C. (Christine), Lowe, T.L. (Thomas), Lyon, H.N. (Helen), MacCiardi, F. (Fabio), Maier, W. (Wolfgang), McCracken, J.T. (James), McMahon, W.M. (William), Murphy, D.L. (Dennis), Naarden, A.L. (Allan), Nurmi, E. (Erika), Pakstis, A.J., Pato, C. (Carlos), Piacentini, J. (John), Pittenger, C. (Christopher), Pollak, M.N. (Michael), Reus, V.I. (Victor), Richter, M.A. (Margaret), Riddle, M. (Mark), Robertson, M.M., Rosenberg, D. (David), Rouleau, G.A., Ruhrmann, S. (Stephan), Sampaio, A.S. (Aline), Samuels, J. (Jonathan), Sandor, P. (Paul), Sheppard, B. (Brooke), Singer, H.S. (Harvey), Smit, J.H. (Jan), Stein, D.J. (Dan), Tischfield, J.A. (Jay), Vallada, H. (Homero), Veenstra-Vanderweele, J. (Jeremy), Walitza, S. (Susanne), Wang, Y. (Ying), Wendland, A. (Annika), Shugart, Y.Y., Miguel, E.C. (Euripedes), Nicolini, H. (Humberto), Oostra, B.A. (Ben), Moessner, R. (Rainald), Wagner, M. (Michael), Ruiz-Linares, A. (Andres), Heutink, P. (Peter), Nestadt, G. (Gerald), Freimer, N.B. (Nelson), Petryshen, T.L. (Tracey), Posthuma, D. (Danielle), Jenike, M.A. (Michael), Cox, N.J. (Nancy), Hanna, G.L. (Gregory), Brentani, H. (Helena), Scherer, S.W. (Stephen), Arnold, P.D. (Paul), Stewart, S.E., Mathews, C., Knowles, J.A. (James A), Cook, E.H. (Edwin), Pauls, D.L. (David), Wang, K. (Kai), Scharf, J.M., and Neale, B.M. (Benjamin)

Abstract

Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p =.09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p =.08 in the current study, p =.025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.

Published
2014
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3. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

Author

Davis, L.K. (Lea), Yu, D. (D.), Keenan, C.L. (Clare), Gamazon, E. (Eric), Konkashbaev, A.I. (Anuar), Derks, E.M. (Eske), Neale, B.M. (Benjamin), Yang, J. (Joanna), Lee, S.H. (Sang Hong), Evans, P., Barr, C.L. (Cathy), Bellodi, L. (Laura), Benarroch, F. (Fortu), Berrio, G.B. (Gabriel Bedoya), Bienvenu, O.J. (Oscar), Bloch, J. (Jocelyne), Blom, R.M. (Rianne), Bruun, R.D. (Ruth), Budman, C.L. (Cathy), Camarena, B. (Beatriz), Campbell, D. (Desmond), Cappi, C. (Carolina), Cardona Silgado, J.C. (Julio), Cath, D. (Daniëlle), Cavallini, M.C. (Maria), Chavira, D.A. (Denise), Chouinard, S., Conti, G. (Giario), Cook, E.H. (Edwin), Coric, V. (Vladimir), Cullen, C., Deforce, D. (Dieter), Delorme, R. (Richard), Dion, Y. (Yves), Edlund, C.K. (Christopher), Egberts, K. (Karin), Falkai, P. (Peter), Fernandez, T.V. (Thomas), Gallagher, P. (Patience), Garrido, H. (Helena), Geller, D. (Daniel), Girard, S.L. (Simon), Grabe, H.J. (Hans Jörgen), Grados, M. (Marco), Greenberg, B.D. (Benjamin), Gross-Tsur, V. (Varda), Haddad, S. (Stephen), Heiman, M.L. (Mark), Hemmings, S.M.J. (Sian), Hounie, A.G. (Ana), Illmann, C. (Cornelia), Jankovic, J. (Joseph), Jenike, M.A. (Michael), Kennedy, J.L., King, R.A., Kremeyer, B. (Barbara), Kurlan, R. (Roger), Lanzagorta, N. (Nuria), Leboyer, M. (Marion), Leckman, J.F., Lennertz, L. (Leonhard), Liu, C. (Chunyu), Lochner, C. (Christine), Lowe, T.L. (Thomas), MacCiardi, F. (Fabio), McCracken, J.T. (James), McGrath, L.M., Mesa Restrepo, S.C. (Sandra), Moessner, R. (Rainald), Morgan, J. (John), Muller, H., Murphy, D.L. (Dennis), Naarden, A.L. (Allan), Ochoa, W.C. (William Cornejo), Ophoff, R.A. (Roel), Osiecki, L. (Lisa), Pakstis, A.J., Pato, C. (Carlos), Piacentini, J. (John), Pittenger, C. (Christopher), Pollak, M.N. (Michael), Rauch, S.L. (Scott), Renner, T.J. (Tobias), Reus, V.I. (Victor), Richter, M.A. (Margaret), Riddle, M.A. (Mark), Robertson, M.M., Romero, R. (Roxana), Rosário, M.C. (Maria), Rosenberg, D. (David), Rouleau, G. (Guy), Ruhrmann, S. (Stephan), Ruiz-Linares, A. (Andres), Sampaio, A.S. (Aline), Samuels, J. (Jonathan), Sandor, P., Sheppard, B. (Brooke), Singer, H.S., Smit, J.H. (Jan), Stein, D.J. (Dan), Strengman, E. (Eric), Tischfield, J.A. (Jay), Valencia Duarte, A.V. (Ana), Vallada, H. (Homero), Nieuwerburgh, F. (Filip) van, Veenstra-Vanderweele, J. (Jeremy), Walitza, S. (Susanne), Wang, Y. (Ying), Wendland, A. (Annika), Westenberg, H.G.M. (Herman G.), Shugart, Y.Y., Miguel, E.C. (Euripedes), McMahon, W.M. (William), Wagner, M. (Michael), Nicolini, H. (Humberto), Posthuma, D. (Danielle), Hanna, G.L. (Gregory), Heutink, P. (Peter), Denys, D.A.J.P. (Damiaan), Arnold, P.D. (Paul), Oostra, B.A. (Ben), Nestadt, G. (Gerald), Freimer, N.B. (Nelson), Pauls, D.L. (David), Wray, N.R. (Naomi), Stewart, S.E., Mathews, C.A., Knowles, J.A. (James), Cox, N.J. (Nancy), Scharf, J.M., Davis, L.K. (Lea), Yu, D. (D.), Keenan, C.L. (Clare), Gamazon, E. (Eric), Konkashbaev, A.I. (Anuar), Derks, E.M. (Eske), Neale, B.M. (Benjamin), Yang, J. (Joanna), Lee, S.H. (Sang Hong), Evans, P., Barr, C.L. (Cathy), Bellodi, L. (Laura), Benarroch, F. (Fortu), Berrio, G.B. (Gabriel Bedoya), Bienvenu, O.J. (Oscar), Bloch, J. (Jocelyne), Blom, R.M. (Rianne), Bruun, R.D. (Ruth), Budman, C.L. (Cathy), Camarena, B. (Beatriz), Campbell, D. (Desmond), Cappi, C. (Carolina), Cardona Silgado, J.C. (Julio), Cath, D. (Daniëlle), Cavallini, M.C. (Maria), Chavira, D.A. (Denise), Chouinard, S., Conti, G. (Giario), Cook, E.H. (Edwin), Coric, V. (Vladimir), Cullen, C., Deforce, D. (Dieter), Delorme, R. (Richard), Dion, Y. (Yves), Edlund, C.K. (Christopher), Egberts, K. (Karin), Falkai, P. (Peter), Fernandez, T.V. (Thomas), Gallagher, P. (Patience), Garrido, H. (Helena), Geller, D. (Daniel), Girard, S.L. (Simon), Grabe, H.J. (Hans Jörgen), Grados, M. (Marco), Greenberg, B.D. (Benjamin), Gross-Tsur, V. (Varda), Haddad, S. (Stephen), Heiman, M.L. (Mark), Hemmings, S.M.J. (Sian), Hounie, A.G. (Ana), Illmann, C. (Cornelia), Jankovic, J. (Joseph), Jenike, M.A. (Michael), Kennedy, J.L., King, R.A., Kremeyer, B. (Barbara), Kurlan, R. (Roger), Lanzagorta, N. (Nuria), Leboyer, M. (Marion), Leckman, J.F., Lennertz, L. (Leonhard), Liu, C. (Chunyu), Lochner, C. (Christine), Lowe, T.L. (Thomas), MacCiardi, F. (Fabio), McCracken, J.T. (James), McGrath, L.M., Mesa Restrepo, S.C. (Sandra), Moessner, R. (Rainald), Morgan, J. (John), Muller, H., Murphy, D.L. (Dennis), Naarden, A.L. (Allan), Ochoa, W.C. (William Cornejo), Ophoff, R.A. (Roel), Osiecki, L. (Lisa), Pakstis, A.J., Pato, C. (Carlos), Piacentini, J. (John), Pittenger, C. (Christopher), Pollak, M.N. (Michael), Rauch, S.L. (Scott), Renner, T.J. (Tobias), Reus, V.I. (Victor), Richter, M.A. (Margaret), Riddle, M.A. (Mark), Robertson, M.M., Romero, R. (Roxana), Rosário, M.C. (Maria), Rosenberg, D. (David), Rouleau, G. (Guy), Ruhrmann, S. (Stephan), Ruiz-Linares, A. (Andres), Sampaio, A.S. (Aline), Samuels, J. (Jonathan), Sandor, P., Sheppard, B. (Brooke), Singer, H.S., Smit, J.H. (Jan), Stein, D.J. (Dan), Strengman, E. (Eric), Tischfield, J.A. (Jay), Valencia Duarte, A.V. (Ana), Vallada, H. (Homero), Nieuwerburgh, F. (Filip) van, Veenstra-Vanderweele, J. (Jeremy), Walitza, S. (Susanne), Wang, Y. (Ying), Wendland, A. (Annika), Westenberg, H.G.M. (Herman G.), Shugart, Y.Y., Miguel, E.C. (Euripedes), McMahon, W.M. (William), Wagner, M. (Michael), Nicolini, H. (Humberto), Posthuma, D. (Danielle), Hanna, G.L. (Gregory), Heutink, P. (Peter), Denys, D.A.J.P. (Damiaan), Arnold, P.D. (Paul), Oostra, B.A. (Ben), Nestadt, G. (Gerald), Freimer, N.B. (Nelson), Pauls, D.L. (David), Wray, N.R. (Naomi), Stewart, S.E., Mathews, C.A., Knowles, J.A. (James), Cox, N.J. (Nancy), and Scharf, J.M.

Abstract

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained b

Published
2013
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4. MGMT methylation analysis of glioblastoma on the Infinium methylation BeadChip identifies two distinct CpG regions associated with gene silencing and outcome, yielding a prediction model for comparisons across datasets, tumor grades, and CIMP-status

Author

Bady, P. (Pierre), Sciuscio, D. (Davide), Diserens, A.C., Bloch, J. (Jocelyne), Bent, M.J. (Martin) van den, Marosi, C. (Christine), Dietrich, P-Y. (Pierre Yves), Weller, M. (Michael), Mariani, L. (Luigi), Heppner, F.L. (Frank ), Macdonald, D.R.W. (David), Lacombe, D. (Denis), Stupp, R. (Roger), Delorenzi, M. (Mauro), Hegi, M.E. (Monika), Bady, P. (Pierre), Sciuscio, D. (Davide), Diserens, A.C., Bloch, J. (Jocelyne), Bent, M.J. (Martin) van den, Marosi, C. (Christine), Dietrich, P-Y. (Pierre Yves), Weller, M. (Michael), Mariani, L. (Luigi), Heppner, F.L. (Frank ), Macdonald, D.R.W. (David), Lacombe, D. (Denis), Stupp, R. (Roger), Delorenzi, M. (Mauro), and Hegi, M.E. (Monika)

Abstract

The methylation status of the O6-methylguanine- DNA methyltransferase (MGMT) gene is an important predictive biomarker for benefit from alkylating agent therapy in glioblastoma. Recent studies in anaplastic glioma suggest a prognostic value for MGMT methylation. Investigation of pathogenetic and epigenetic features of this intriguingly distinct behavior requires accurate MGMT classification to assess high throughput molecular databases. Promoter methylation-mediated gene silencing is strongly dependent on the location of the methylated CpGs, c

Published
2012
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