Documentation

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Publication Details

Results for Tuncay2023:

Summary

Title	The genetics of autism spectrum disorder in an East African familial cohort
Authors	Tuncay, I.O., DeVries, D., Gogate, A., Kaur, K., Kumar, A., Xing, C., Goodspeed, K., Seyoum-Tesfa, L., Chahrour, M.H.
Technology	WGS
Variant source	Table S6
Cohorts	individuals with East African ancestry
Design	simplex and multiplex
URL	https://dx.doi.org/https://doi.org/10.1016/j.xgen.2023.100322
Pubmed
Subject count	33 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	278
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	8
frameshift insertion	2
nonsynonymous SNV	259
splicing	1
stopgain	5
unknown	4

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.