Documentation

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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
Authors	Dou, 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.
Technology	Whole Exome sequencing
Variant source	Supplementary Table 3:
Cohorts	Simon Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1002/humu.23255
Pubmed	28503910
Subject count	710 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	904
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	367
other	317
splicing	13
stopgain	24
synonymous SNV	174
unknown	9

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.