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Publication Details

Results for Sanders2012:

Summary
Title De novo mutations revealed by whole-exome sequencing are strongly associated with autism
AuthorsSanders, 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.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 2: List of de novo mutations
CohortsSimons Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1038/nature10945
Pubmed22495306
Subject count64
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 count96
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift insertion1
nonsynonymous SNV72
splicing5
stopgain5
synonymous SNV13

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.