Documentation

or

Publication Details

Results for Wang2023:

Summary

Title	https://doi.org/10.1016/j.biopsych.2023.06.025
Authors	Wang, J., Yu, J., Wang, M., Zhang, L., Yang, K., Du, X., Wu, J., Wang, X., Li, F., Qiu, Z.
Technology	WES
Variant source	Table S1
Cohorts	Xinhua Hospital, China
Design	simplex
URL	https://dx.doi.org/https://doi.org/10.1016/j.biopsych.2023.06.025
Pubmed	37393044
Subject count	453 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	708
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	33
frameshift insertion	17
nonframeshift deletion	11
nonsynonymous SNV	586
splicing	14
stopgain	46
stoploss	1

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.