Publication Details

Results for Yuan2023:

Title Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism
AuthorsYuan, B., Wang, M., Wu, X., Cheng, P., Zhang, R., Zhang, R., Yu, S., Zhang, J., Du, Y., Wang, X., Qiu, Z.
TechnologyWhole Exome Sequencing
Variant sourceTable S1
CohortsShanghai Mental Health Center
Subject count168
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 count221
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion12
frameshift insertion11
nonframeshift deletion4
nonframeshift insertion1
nonsynonymous SNV160

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.