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

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology
Veronica B Searles QuickMatthew W State

Abstract

"Big data" approaches in the form of large-scale human genomic studies have led to striking advances in autism spectrum disorder (ASD) genetics. Similar to many other psychiatric syndromes, advances in genotyping technology, allowing for inexpensive genome-wide assays, has confirmed the contribution of polygenic inheritance involving common alleles of small effect, a handful of which have now been definitively identified. However, the past decade of gene discovery in ASD has been most notable for the application, in large family-based cohorts, of high-density microarray studies of submicroscopic chromosomal structure as well as high-throughput DNA sequencing-leading to the identification of an increasingly long list of risk regions and genes disrupted by rare, de novo germline mutations of large effect. This genomic architecture offers particular advantages for the illumination of biological mechanisms but also presents distinctive challenges. While the tremendous locus heterogeneity and functional pleiotropy associated with the more than 100 identified ASD-risk genes and regions is daunting, a growing armamentarium of comprehensive, large, foundational -omics databases, across species and capturing developmental trajectories, ...Continue Reading

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Citations

Sep 18, 2020·Journal of Autism and Developmental Disorders·Anita Thapar, Michael Rutter
Sep 13, 2020·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Kerry J Ressler, Leanne M Williams
Jan 2, 2021·The American Journal of Psychiatry·Devanand S Manoli, Matthew W State
Feb 27, 2021·Psychological Medicine·A HavdahlV Warrier
Jul 31, 2021·Journal of Autism and Developmental Disorders·Eric FombonneBrian J O'Roak

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Methods Mentioned

BETA
genotyping
RNAseq
scRNAseq
pharmacotherapies
antisense oligonucleotides
SMA

Software Mentioned

Brainspan
TADA
FitDNM
BrainVar
PsychENCODE
- Annotations

Related Concepts

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