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Publication Details

Results for Tuncay2023:

Summary
Title The genetics of autism spectrum disorder in an East African familial cohort
AuthorsTuncay, I.O., DeVries, D., Gogate, A., Kaur, K., Kumar, A., Xing, C., Goodspeed, K., Seyoum-Tesfa, L., Chahrour, M.H.
TechnologyWGS
Variant sourceTable S6
Cohortsindividuals with East African ancestry
Designsimplex and multiplex
URLhttps://dx.doi.org/https://doi.org/10.1016/j.xgen.2023.100322
Pubmed
Subject count33
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 count278
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion8
frameshift insertion2
nonsynonymous SNV259
splicing1
stopgain5
unknown4

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.