Documentation

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Publication Details

Results for Yuan2023:

Summary

Title	Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism
Authors	Yuan, B., Wang, M., Wu, X., Cheng, P., Zhang, R., Zhang, R., Yu, S., Zhang, J., Du, Y., Wang, X., Qiu, Z.
Technology	Whole Exome Sequencing
Variant source	Table S1
Cohorts	Shanghai Mental Health Center
Design	trios
URL	https://dx.doi.org/10.1007/s12264-023-01037-6
Pubmed	36881370
Subject count	168 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	221
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	12
frameshift insertion	11
nonframeshift deletion	4
nonframeshift insertion	1
nonsynonymous SNV	160
other	2
splicing	11
stopgain	19
unknown	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.