Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability / Yiping SHEN  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Yiping SHEN, Auteur ; Xiaohong GONG, Auteur Année de publication : 2016 Importance : p.3-12 Langues : Anglais (eng) Mots-clés : Autozygosity mapping  Balanced translocation breakpoint mapping  Candidate gene approach  Copy number variations  Exome sequencing  Linkage analysis  Next-generation sequencing  Positional mapping  Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability [Texte imprimé et/ou numérique] / Yiping SHEN, Auteur ; Xiaohong GONG, Auteur . - 2016 . - p.3-12. Langues : Anglais (eng) Mots-clés : Autozygosity mapping  Balanced translocation breakpoint mapping  Candidate gene approach  Copy number variations  Exome sequencing  Linkage analysis  Next-generation sequencing  Positional mapping  Whole-genome sequencing Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Technological advancements for interrogating genomic variants continue to facilitate discoveries of the genetic causes of intellectual disability (ID) and autism spectrum disorders (ASD), both of which are neurodevelopmental disorders known to have a strong genetic basis. In this chapter we discuss the major methods and approaches that have had significant roles in revealing genes and genomic regions associated with ID and ASD. Linkage analysis followed by candidate gene sequencing and positional cloning in patients with genomic rearrangements have been largely responsible for the success of identifying X-linked and autosomal dominant ID/ASD genes. Autozygosity mapping has a unique role in identifying recessive ID/ASD genes. Exome and whole-genome sequencing has provided unprecedented power for genotyping, and the data have provided us with a broader understanding of the association of de novo variants with ID and ASD. We believe that a better understanding of the genetic underpinnings will lead to better diagnosis, management, and treatment for patients with ID and ASD. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00001-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

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