Documentation

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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
Authors	Willsey, 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,
Technology	Whole exome sequencing
Variant source	Table S1. De Novo Mutations
Cohorts	Simons Simplex Collection, PMID:22542183, PMID:23160955, PMID:22495309, PMID:22495311, PMID:22914163
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1016/j.cell.2013.10.020
Pubmed	24267886
Subject count	134 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	147
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	45
frameshift insertion	18
nonframeshift deletion	1
other	1
splicing	24
stopgain	56
stoploss	1
unknown	1

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.