Documentation

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Publication Details

Results for Hu2023:

Summary

Title	Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.
Authors	Hu, C., Wang, Y., Li, C., Mei, L., Zhou, B., Li, D., Li, H., Xu, Q., Xu, X.
Technology	Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study.
Variant source	Table 2
Cohorts	Children’s Hospital of Fudan University
Design	simplex
URL	https://dx.doi.org/https://doi.org/10.3389/fgene.2023.1083779
Pubmed	37007974
Subject count	72 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	89
Curation notes	View

Breakdown by exonic function

Function	Variant Count
other	89

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.