ASD probands were scanned for rare inherited CNVs or de novo CNVs where 76 events were found from 53 individuals. Such events included disruptions in particular genes that involved in development and/or associated with bipolar disorder and schizophrenia.
Authors:
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure & Evan E. Eichler
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Schizophrenia. The EFO term schizophrenia was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
G Kirov, I Zaharieva, L Georgieva, V Moskvina, I Nikolov, S Cichon, A Hillmer, D Toncheva, MJ Owen, MC O'Donovan
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Obsessive-compulsive disorder. The EFO term obsessive-compulsive disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
SE Stewart, D Yu, JM Scharf, BM Neale, JA Fagerness, CA Mathews, PD Arnold, PD Evans, ER Gamazon, LK Davis, L Osiecki, L McGrath, S Haddad, J Crane, D Hezel, C Illman, C Mayerfeld, A Konkashbaev, C Liu, A Pluzhnikov, A Tikhomirov, CK Edlund, SL Rauch, R Moessner, P Falkai, W Maier, S Ruhrmann, HJ Grabe, L Lennertz, M Wagner, L Bellodi, MC Cavallini, MA Richter, EH Cook, JL Kennedy, D Rosenberg, DJ Stein, SM Hemmings, C Lochner, A Azzam, DA Chavira, E Fournier, H Garrido, B Sheppard, P Umaña, DL Murphy, JR Wendland, J Veenstra-VanderWeele, D Denys, R Blom, D Deforce, F Van Nieuwerburgh, HG Westenberg, S Walitza, K Egberts, T Renner, EC Miguel, C Cappi, AG Hounie, M Conceição do Rosário, AS Sampaio, H Vallada, H Nicolini, N Lanzagorta, B Camarena, R Delorme, M Leboyer, CN Pato, MT Pato, E Voyiaziakis, P Heutink, DC Cath, D Posthuma, JH Smit, J Samuels, OJ Bienvenu, B Cullen, AJ Fyer, MA Grados, BD Greenberg, JT McCracken, MA Riddle, Y Wang, V Coric, JF Leckman, M Bloch, C Pittenger, V Eapen, DW Black, RA Ophoff, E Strengman, D Cusi, M Turiel, F Frau, F Macciardi, JR Gibbs, MR Cookson, A Singleton, J Hardy, AT Crenshaw, MA Parkin, DB Mirel, DV Conti, S Purcell, G Nestadt, GL Hanna, MA Jenike, JA Knowles, N Cox, DL Pauls
Exomes were sequenced in parent-child autism trios to determine if de novo mutations are responsible for risk of developing ASD in families with no prior history.
Authors:
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure & Evan E. Eichler
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cleft lip. The EFO term cleft lip was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
TH Beaty, JC Murray, ML Marazita, RG Munger, I Ruczinski, JB Hetmanski, KY Liang, T Wu, T Murray, MD Fallin, RA Redett, G Raymond, H Schwender, SC Jin, ME Cooper, M Dunnwald, MA Mansilla, E Leslie, S Bullard, AC Lidral, LM Moreno, R Menezes, AR Vieira, A Petrin, AJ Wilcox, RT Lie, EW Jabs, YH Wu-Chou, PK Chen, H Wang, X Ye, S Huang, V Yeow, SS Chong, SH Jee, B Shi, K Christensen, M Melbye, KF Doheny, EW Pugh, H Ling, EE Castilla, AE Czeizel, L Ma, LL Field, L Brody, F Pangilinan, JL Mills, AM Molloy, PN Kirke, JM Scott, JM Scott, M Arcos-Burgos, AF Scott
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Orofacial clefts (interaction). The EFO term Orofacial clefting syndrome, cleft lip was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
TH Beaty, I Ruczinski, JC Murray, ML Marazita, RG Munger, JB Hetmanski, T Murray, RJ Redett, MD Fallin, KY Liang, T Wu, PJ Patel, SC Jin, TX Zhang, H Schwender, YH Wu-Chou, PK Chen, SS Chong, F Cheah, V Yeow, X Ye, H Wang, S Huang, EW Jabs, B Shi, AJ Wilcox, RT Lie, SH Jee, K Christensen, KF Doheny, EW Pugh, H Ling, AF Scott
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Attention deficit hyperactivity disorder (time to onset). The EFO term attention deficit hyperactivity disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
J Lasky-Su, RJ Anney, BM Neale, B Franke, K Zhou, JB Maller, AA Vasquez, W Chen, P Asherson, J Buitelaar, T Banaschewski, R Ebstein, M Gill, A Miranda, F Mulas, RD Oades, H Roeyers, A Rothenberger, J Sergeant, E Sonuga-Barke, HC Steinhausen, E Taylor, M Daly, N Laird, C Lange, SV Faraone
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Inattentive symptoms. The EFO term behavior was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
J Lasky-Su, BM Neale, B Franke, RJ Anney, K Zhou, JB Maller, AA Vasquez, W Chen, P Asherson, J Buitelaar, T Banaschewski, R Ebstein, M Gill, A Miranda, F Mulas, RD Oades, H Roeyers, A Rothenberger, J Sergeant, E Sonuga-Barke, HC Steinhausen, E Taylor, M Daly, N Laird, C Lange, SV Faraone
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Attention deficit hyperactivity disorder. The EFO term attention deficit hyperactivity disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
J Lasky-Su, BM Neale, B Franke, RJ Anney, K Zhou, JB Maller, AA Vasquez, W Chen, P Asherson, J Buitelaar, T Banaschewski, R Ebstein, M Gill, A Miranda, F Mulas, RD Oades, H Roeyers, A Rothenberger, J Sergeant, E Sonuga-Barke, HC Steinhausen, E Taylor, M Daly, N Laird, C Lange, SV Faraone
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Conduct disorder (interaction). The EFO term conduct disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
EJ Sonuga-Barke, J Lasky-Su, BM Neale, R Oades, W Chen, B Franke, J Buitelaar, T Banaschewski, R Ebstein, M Gill, R Anney, A Miranda, F Mulas, H Roeyers, A Rothenberger, J Sergeant, HC Steinhausen, M Thompson, P Asherson, SV Faraone
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Attention deficit hyperactivity disorder symptoms (interaction). The EFO term attention deficit hyperactivity disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
EJ Sonuga-Barke, J Lasky-Su, BM Neale, R Oades, W Chen, B Franke, J Buitelaar, T Banaschewski, R Ebstein, M Gill, R Anney, A Miranda, F Mulas, H Roeyers, A Rothenberger, J Sergeant, HC Steinhausen, M Thompson, P Asherson, SV Faraone
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Celiac disease. The EFO term celiac disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
M Östensson, C Montén, J Bacelis, AH Gudjonsdottir, S Adamovic, J Ek, H Ascher, E Pollak, H Arnell, L Browaldh, D Agardh, J Wahlström, S Nilsson, Å Torinsson-Naluai
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Asthma (childhood onset). The EFO term childhood onset asthma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
L Ding, T Abebe, J Beyene, RA Wilke, A Goldberg, JG Woo, LJ Martin, ME Rothenberg, M Rao, GK Hershey, R Chakraborty, TB Mersha
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Sagittal craniosynostosis. The EFO term Isolated scaphocephaly was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs, M Erazo, X Ye, E Ainehsazan, L Shi, ML Cunningham, V Kimonis, T Roscioli, SA Wall, AO Wilkie, J Stoler, JT Richtsmeier, Y Heuzé, PA Sanchez-Lara, MF Buckley, CM Druschel, JL Mills, M Caggana, PA Romitti, DM Kay, C Senders, PJ Taub, OD Klein, J Boggan, M Zwienenberg-Lee, C Naydenov, J Kim, AF Wilson, SA Boyadjiev
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Asthma (childhood onset). The EFO term childhood onset asthma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
DB Hancock, I Romieu, M Shi, JJ Sienra-Monge, H Wu, GY Chiu, H Li, BE del Rio-Navarro, SA Willis-Owen, SA Willis-Owens, ST Weiss, BA Raby, H Gao, C Eng, R Chapela, EG Burchard, H Tang, PF Sullivan, SJ London
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Crohn's disease. The EFO term Crohn's disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
JV Raelson, RD Little, A Ruether, H Fournier, B Paquin, P Van Eerdewegh, WE Bradley, P Croteau, Q Nguyen-Huu, J Segal, S Debrus, R Allard, P Rosenstiel, A Franke, G Jacobs, S Nikolaus, JM Vidal, P Szego, N Laplante, HF Clark, RJ Paulussen, JW Hooper, TP Keith, A Belouchi, S Schreiber
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Type 1 diabetes. The EFO term type I diabetes mellitus was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
SF Grant, HQ Qu, JP Bradfield, L Marchand, CE Kim, JT Glessner, R Grabs, SP Taback, EC Frackelton, AW Eckert, K Annaiah, ML Lawson, FG Otieno, E Santa, JL Shaner, RM Smith, R Skraban, M Imielinski, RM Chiavacci, RW Grundmeier, CA Stanley, SE Kirsch, D Waggott, AD Paterson, DS Monos, C Polychronakos, H Hakonarson
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Stroke (pediatric). The EFO term stroke was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
A Arning, M Hiersche, A Witten, G Kurlemann, K Kurnik, D Manner, M Stoll, U Nowak-Göttl
21 non-synonymous de novo mutations were mapped in a CNV region that is often recognized in children who display developmental delay and ASD.
Authors:
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure & Evan E. Eichler
This gene set shows considerable overlap with genes that are disrupted by single de novo CNVs in children with ASD. There is potential that these de novo SNVs are indicative of the major effect locus responsible for ASD-associated features.
Authors:
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure & Evan E. Eichler
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cleft plate (environmental tobacco smoke interaction). The EFO term cleft palate was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
T Wu, H Schwender, I Ruczinski, JC Murray, ML Marazita, RG Munger, JB Hetmanski, MM Parker, P Wang, T Murray, M Taub, S Li, RJ Redett, MD Fallin, KY Liang, YH Wu-Chou, SS Chong, V Yeow, X Ye, H Wang, S Huang, EW Jabs, B Shi, AJ Wilcox, SH Jee, AF Scott, TH Beaty
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Autism spectrum disorder-related traits. The EFO term autism spectrum disorder was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha, JK Lowe, AJ Willsey, D Moreno-De-Luca, TW Yu, E Fombonne, D Geschwind, DE Grice, DH Ledbetter, SM Mane, DM Martin, EM Morrow, CA Walsh, JS Sutcliffe, C Lese Martin, AL Beaudet, C Lord, MW State, EH Cook, B Devlin
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Autism spectrum disorder-related traits. The EFO term autism spectrum disorder symptom was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
P Chaste, L Klei, SJ Sanders, V Hus, MT Murtha, JK Lowe, AJ Willsey, D Moreno-De-Luca, TW Yu, E Fombonne, D Geschwind, DE Grice, DH Ledbetter, SM Mane, DM Martin, EM Morrow, CA Walsh, JS Sutcliffe, C Lese Martin, AL Beaudet, C Lord, MW State, EH Cook, B Devlin
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Conotruncal heart defects. The EFO term Conotruncal heart malformations, parental genotype effect measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
AJ Agopian, LE Mitchell, J Glessner, AD Bhalla, A Sewda, H Hakonarson, E Goldmuntz
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Conotruncal heart defects. The EFO term Conotruncal heart malformations was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
AJ Agopian, LE Mitchell, J Glessner, AD Bhalla, A Sewda, H Hakonarson, E Goldmuntz
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