Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants / Anthony J. GRISWOLD in Molecular Autism, (July 2015)  

Public ISBD [article]  inMolecular Autism > (July 2015) . - p.1-11 Titre : Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants Type de document : texte imprimé Auteurs : Anthony J. GRISWOLD, Auteur ; Nicole D. DUEKER, Auteur ; Derek BOOVEN, Auteur ; Joseph A. RANTUS, Auteur ; James M. JAWORSKI, Auteur ; Susan H. SLIFER, Auteur ; Michael A. SCHMIDT, Auteur ; William HULME, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Michael L. CUCCARO, Auteur ; Eden R. MARTIN, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; John P. HUSSMAN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have revealed genes with recurrent de novo loss-of-function variants as strong risk factors, but there are relatively few recurrently affected genes while as many as 1000 genes are predicted to play a role. As such, it is critical to identify the remaining rare and low-frequency variants contributing to ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0034-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants [texte imprimé] / Anthony J. GRISWOLD, Auteur ; Nicole D. DUEKER, Auteur ; Derek BOOVEN, Auteur ; Joseph A. RANTUS, Auteur ; James M. JAWORSKI, Auteur ; Susan H. SLIFER, Auteur ; Michael A. SCHMIDT, Auteur ; William HULME, Auteur ; Ioanna KONIDARI, Auteur ; Patrice L. WHITEHEAD, Auteur ; Michael L. CUCCARO, Auteur ; Eden R. MARTIN, Auteur ; Jonathan L. HAINES, Auteur ; John R. GILBERT, Auteur ; John P. HUSSMAN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (July 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic risk. ASD trio exome sequencing studies have revealed genes with recurrent de novo loss-of-function variants as strong risk factors, but there are relatively few recurrently affected genes while as many as 1000 genes are predicted to play a role. As such, it is critical to identify the remaining rare and low-frequency variants contributing to ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0034-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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