Publication Details

Results for Hu2022:

Title Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
AuthorsHu, C., He, L., Li, H., Ding, Y., Zhang, K., Li, D., Zhu, G., Wu, B., Xu, X., Xu, Q.
Technologytargeted sequencing
Variant sourceTable 1. SNVs identified from ASD patients from CTPS
CohortsChildren's Hospital of Fudan University, Department of Child Health Care
Subject count83
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 count110
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion10
frameshift insertion3
nonframeshift deletion1
nonsynonymous SNV73

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.