Article

Recent ultra-rare inherited mutations identify novel autism candidate risk genes

2020-02-11

Abstract excerpt

Autism is a highly heritable, complex disorder where de novo mutation (DNM) variation contributes significantly to disease risk. Using whole-genome sequencing data from 3,474 families, we investigate another source of large-effect risk variation, ultra-rare mutations. We report and replicate a transmission disequilibrium of private likely-gene disruptive (LGD) mutations in probands but find that 95% of this burde...

Topics

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

Identifiers and source

Literature Corpus work: e1b5989b-3e4a-51cd-a1ad-0566b312ccd4
DOI: 10.1101/2020.02.10.932327

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Recent ultra-rare inherited mutations identify novel autism candidate risk genesDOI 10.1101/2020.02.10.932327Read

Recent ultra-rare inherited variants implicate new autism candidate risk genes.Semantic proximity Read

The contribution of de novo coding mutations to autism spectrum disorder.Semantic proximity Read

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

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

Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disordersSemantic proximity Read

Low load for disruptive mutations in autism genes and their biased transmission.Semantic proximity Read

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Semantic proximity Read

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.Semantic proximity Read

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorderSemantic proximity Read

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Semantic proximity Read

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.Semantic proximity Read

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