Documentation

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Publication Details

Results for Sanders2012:

Summary

Title	De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Authors	Sanders, S.J., Murtha, M.T., Gupta, A.R., Murdoch, J.D., Raubeson, M.J., Willsey, A.J., Ercan-Sencicek, A.G., DiLullo, N.M., Parikshak, N.N., Stein, J.L., Walker, M.F., Ober, G.T., Teran, N.A., Song, Y., El-Fishawy, P., Murtha, R.C., Choi, M., Overton, J.
Technology	Whole exome sequencing
Variant source	Supplementary Table 2: List of de novo mutations
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/nature10945
Pubmed	22495306
Subject count	64 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	96
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift insertion	1
nonsynonymous SNV	72
splicing	5
stopgain	5
synonymous SNV	13

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.