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Publication Details

Results for Hu2022:

Summary

Title	Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Authors	Hu, C., He, L., Li, H., Ding, Y., Zhang, K., Li, D., Zhu, G., Wu, B., Xu, X., Xu, Q.
Technology	targeted sequencing
Variant source	Table 1. SNVs identified from ASD patients from CTPS
Cohorts	Children's Hospital of Fudan University, Department of Child Health Care
Design	simplex
URL	https://dx.doi.org/10.3390/genes13061010
Pubmed	35741772
Subject count	83 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	110
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	10
frameshift insertion	3
nonframeshift deletion	1
nonsynonymous SNV	73
other	6
splicing	4
stopgain	13

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.