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Publication Details

Results for Willsey2013:

Summary
Title Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
AuthorsWillsey, A.J., Sanders, S.J., Li, M., Dong, S., Tebbenkamp, A.T., Muhle, R.A., Reilly, S.K., Lin, L., Fertuzinhos, S., Miller, J.A., Murtha, M.T., Bichsel, C., Niu, W., Cotney, J., Ercan-Sencicek, A.G., Gockley, J., Gupta, A.R., Han, W., He, X., Hoffman,
TechnologyWhole exome sequencing
Variant sourceTable S1. De Novo Mutations
CohortsSimons Simplex Collection, PMID:22542183, PMID:23160955, PMID:22495309, PMID:22495311, PMID:22914163
DesignSimplex/Multiplex
URLhttps://dx.doi.org/10.1016/j.cell.2013.10.020
Pubmed24267886
Subject count134
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 count147
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion45
frameshift insertion18
nonframeshift deletion1
other1
splicing24
stopgain56
stoploss1
unknown1

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.