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Integrating large-scale datasets to explore the spectrum of genetic structural variation in autism

2019 Postdoctoral Fellowships

Massachusetts General Hospital
Boston, Massachusetts
United States


This project will assemble a comprehensive gene discovery effort in ASD by integrating all classes of variation (SNVs, indels, and SVs) in more than 640,000 samples. It will permit the first comprehensive evaluation of genetic architecture in ASD to facilitate a stronger biological basis for basic research and clearer definition of the genetic basis of clinically distinct subtypes.

Disseminations
TypeDateTitle/Link
Publication12/21/2021Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Publication08/18/2022Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Publication07/18/2022Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis
Publication05/23/2022Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p
Publication04/26/2022Characterizing developmental variability in autism spectrum disorder across 17,000 cases and 4,000 unaffected siblings: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis
Publication03/09/2023Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies
Publication03/01/2022Transcriptional patterns of coexpression across autism risk genes converge on established and novel signatures of neurodevelopment
Publication01/28/2021A cross-disorder dosage sensitivity map of the human genome

Status:

Completed

Investigator:

Fu, Jack

Mentor:

Talkowski, Michael

Grant Term:

2 years

Award Type:

Postdoctoral Fellowships

Grant Amount:

$119,900.00

Institution Website:

http://www.massgeneral.org

Grant ID:

11852