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Publication Details

Results for Schaaf2011:

Summary

Title	Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
Authors	Schaaf, C.P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., Gibbs, R.A., Zoghbi, H.Y.
Technology	Targeted sequencing
Variant source	Table 1: Novel, coding non-synonymous variants detected by Sanger sequencing of 21 autism susceptibility genes in 339 probands with the ASD; Table 2: Novel, coding Indels detected by Sanger sequencing of 21 autism susceptibility genes in 339 probands with the ASD
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1093/hmg/ddr243
Pubmed	21624971
Subject count	78 - 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	104
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	3
nonframeshift deletion	4
nonframeshift insertion	4
nonsynonymous SNV	93

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.