Documentation

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Publication Details

Results for Gogate2024:

Summary

Title	The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
Authors	Gogate, A., Kaur, K., Khalil, R., Bashtawi, M., Morris, M.A., Goodspeed, K., Evans, P., Chahrour, M.H.
Technology	WES
Variant source	Supplementary Data 5
Cohorts	Dallas Fort Worth area, plus Jordan
Design	trios
URL	https://dx.doi.org/10.1038/s41525-024-00444-6
Pubmed	39632905
Subject count	202 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	1112
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	113
nonsynonymous SNV	886
other	8
splicing	12
stopgain	34
synonymous SNV	2
unknown	58

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.