Publication Details

Results for Wang2016:

Title De novo genic mutations among a Chinese autism spectrum disorder cohort
AuthorsWang, T., Guo, H., Xiong, B., Stessman, H.A.F., Wu, H., Coe, B.P., Turner, T.N., Liu, Y., Zhao, W., Hoekzema, K., Vives, L., Xia, L., Tang, M., Ou, J., Chen, B., Shen, Y., Xun, G., Long, M., Lin, J., Kronenberg, Z.N., Peng, Y., Bai, T., Li, H., Ke, X., Hu
TechnologyMolecular inversion probe (189 genes)
Variant sourceSupplementary Data 4. LGD and MIS30 mutations identified in ACGC by MIPs; Supplementary Data 5. Validated rare missense variants (with CADD score ≤ 30) in the 29 genes with DN mutation(s) identified in ACGC
CohortsState Key Laboratory of Medical Genetics of China
Subject count604
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 count770
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion26
frameshift insertion3
frameshift substitution8
nonframeshift deletion2
nonsynonymous SNV658
synonymous SNV1

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.