Article

Whole genome sequencing in multiplex families reveals novel inherited and <i>de novo</i> genetic risk in autism

2018-06-06

Abstract excerpt

Genetic studies of autism spectrum disorder (ASD) have revealed a complex, heterogeneous architecture, in which the contribution of rare inherited variation remains relatively un-explored. We performed whole-genome sequencing (WGS) in 2,308 individuals from families containing multiple affected children, including analysis of single nucleotide variants (SNV) and structural variants (SV). We identified 16 new ASD-r...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 75e7b78c-b81e-56d3-999e-cdee29c044b1
DOI: 10.1101/338855

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing in multiplex families reveals novel inherited and <i>de novo</i> genetic risk in autismDOI 10.1101/338855Read

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.Semantic proximity Read

Genome-wide characterization of genetic and functional dysregulation in autism spectrum disorderSemantic proximity Read

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autismSemantic proximity Read

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.Semantic proximity Read

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotationSemantic proximity Read

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.Semantic proximity Read

The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.Semantic proximity Read

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genesSemantic proximity Read

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.Semantic proximity Read

Genomic architecture of autism from comprehensive whole-genome sequence annotation.Semantic proximity Read

Systematic reconstruction of autism biology from massive genetic mutation profiles.Semantic proximity Read

Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.Semantic proximity Read