Documentation

or

Publication Details

Results for Zhou2019:

Summary

Title	Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations
Authors	Zhou, W.-Z., Zhang, J., Li, Z., Lin, X., Li, J., Wang, S., Yang, C., Wu, Q., Ye, A.Y., Wang, M., Wang, D., Pu, T.Z., Wu, Y.-Y., Wei, L.
Technology	Targeted sequencing
Variant source	Table 1: Summary of pathogenic and likely pathogenic variants in syndromic genes
Cohorts	Chinese cohort
Design	Case control
URL	https://dx.doi.org/10.1002/humu.23724
Pubmed	30763456
Subject count	18 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	18
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	3
frameshift insertion	8
nonframeshift deletion	1
nonsynonymous SNV	2
splicing	1
stopgain	3

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.