Publication Details

Results for Wu2018:

Title Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.
AuthorsWu, J., Yu, P., Jin, X., Xu, X., Li, J., Li, Z., Wang, M., Wang, T., Wu, X., Jiang, Y., Cai, W., Mei, J., Min, Q., Xu, Q., Zhou, B., Guo, H., Wang, P., Zhou, W., Hu, Z., Li, Y., Cai, T., Wang, Y., Xia, K., Jiang, Y.-H., Sun, Z.S.
TechnologyWhole genome sequencing
Variant sourceTable S5, Table S6, Table S11, Table S12, Table S13
CohortsChildren's Hospital of Fudan University, Second Xiangya Hospital of Central South University
Subject count33
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 count2210
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion35
frameshift insertion24
nonframeshift deletion1
nonsynonymous SNV82
synonymous SNV5

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.