Documentation

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Publication Details

Results for Wu2018:

Summary

Title	Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing.
Authors	Wu, 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.
Technology	Whole genome sequencing
Variant source	Table S5, Table S6, Table S11, Table S12, Table S13
Cohorts	Children's Hospital of Fudan University, Second Xiangya Hospital of Central South University
Design	Simplex
URL	https://dx.doi.org/10.1016/j.jgg.2018.09.002
Pubmed	30392784
Subject count	33 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	2210
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	35
frameshift insertion	24
nonframeshift deletion	1
nonsynonymous SNV	82
other	2047
splicing	2
stopgain	14
synonymous SNV	5

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.