| Titre : |
Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Guiqing CAI, Auteur ; Joseph D. BUXBAUM, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.169-177 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
High-risk gene mutations and copy number variants have been identified for ASD but many hundreds of genes and loci remain to be identified. Next-generation sequencing (NGS) will provide a cost-effective means of identifying additional ASD risk loci. In this chapter, we introduce current NGS platforms and describe recent NGS successes in characterizing human genomic variation, identifying genetic variation in human disease, and functional analyses of the human genome, including applications around the transcriptome, epigenome and interactome. Ongoing whole-exome and whole-genome sequencing projects in thousands of ASD are summarized as well, which are already identifying new ASD genes. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Guiqing CAI, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - p.169-177. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
High-risk gene mutations and copy number variants have been identified for ASD but many hundreds of genes and loci remain to be identified. Next-generation sequencing (NGS) will provide a cost-effective means of identifying additional ASD risk loci. In this chapter, we introduce current NGS platforms and describe recent NGS successes in characterizing human genomic variation, identifying genetic variation in human disease, and functional analyses of the human genome, including applications around the transcriptome, epigenome and interactome. Ongoing whole-exome and whole-genome sequencing projects in thousands of ASD are summarized as well, which are already identifying new ASD genes. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
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Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders