Publication Details

Results for Zhou2019:

Title Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations
AuthorsZhou, 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.
TechnologyTargeted sequencing
Variant sourceTable 1: Summary of pathogenic and likely pathogenic variants in syndromic genes
CohortsChinese cohort
DesignCase control
Subject count18
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 count18
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion3
frameshift insertion8
nonframeshift deletion1
nonsynonymous SNV2

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.