The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder / Rob F. GILLIS in Molecular Autism, (July 2011)  

Public ISBD [article]  inMolecular Autism > (July 2011) . - 29 p. Titre : The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Rob F. GILLIS, Auteur ; Guy A. ROULEAU, Auteur Année de publication : 2011 Article en page(s) : 29 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The development of robust, non-hypothesis based case/control studies has led to a large push forward towards identifying common genetic variants that contribute to complex traits. However, despite many attempts, the search for common disease-predisposing variants in childhood developmental disorders has largely failed. Recently, a role for rare causal variants and de novo mutations is emerging in the genetic architecture of some of these disorders, particularly those which incur a large degree of selection against the phenotype. Here we examine these data as well as use classic genetic epidemiological approaches to gain insights into the genetic architecture of ASD. Future studies using next generation sequencing should elucidate the precise role de novo mutations play in disorders traditionally thought to have resulted from polygenic or common disease, common variants inheritance. En ligne : http://dx.doi.org/10.1186/2040-2392-2-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141 [article] The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder [Texte imprimé et/ou numérique] / Rob F. GILLIS, Auteur ; Guy A. ROULEAU, Auteur . - 2011 . - 29 p. Langues : Anglais (eng) in Molecular Autism > (July 2011) . - 29 p. Index. décimale : PER Périodiques Résumé : The development of robust, non-hypothesis based case/control studies has led to a large push forward towards identifying common genetic variants that contribute to complex traits. However, despite many attempts, the search for common disease-predisposing variants in childhood developmental disorders has largely failed. Recently, a role for rare causal variants and de novo mutations is emerging in the genetic architecture of some of these disorders, particularly those which incur a large degree of selection against the phenotype. Here we examine these data as well as use classic genetic epidemiological approaches to gain insights into the genetic architecture of ASD. Future studies using next generation sequencing should elucidate the precise role de novo mutations play in disorders traditionally thought to have resulted from polygenic or common disease, common variants inheritance. En ligne : http://dx.doi.org/10.1186/2040-2392-2-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=141

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