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Publication Details

Results for Dou2017:

Summary
Title Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
AuthorsDou, Y., Yang, X., Li, Z., Wang, S., Zhang, Z., Ye, A.Y., Yan, L., Yang, C., Wu, Q., Li, J., Zhao, B., Huang, A.Y., Wei, L.
TechnologyWhole Exome sequencing
Variant sourceSupplementary Table 3:
CohortsSimon Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1002/humu.23255
Pubmed28503910
Subject count710
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 count904
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV367
other317
splicing13
stopgain24
synonymous SNV174
unknown9

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.