Documentation

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Publication Details

Results for O’Roak2014:

Summary

Title	Recurrent de novo mutations implicate novel genes underlying simplex autism risk
Authors	O’Roak, B.J., Stessman, H.A., Boyle, E.A., Witherspoon, K.T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J.B., Nickerson, D.A., Bernier, R., Shendure, J., Eichler, E.E.
Technology	Molecular inversion probes (64 genes)
Variant source	Supplementary Data 1. Summary of MIP and exome identified de novo mutations in 64 candidate genes.
Cohorts	Simons Simplex Collection, The Autism Simplex Collection, PMID:23033978, PMID:22495311, PMID:23020937
Design	Simplex
URL	https://dx.doi.org/10.1038/ncomms6595
Pubmed	25418537
Subject count	152 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	154
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	24
frameshift insertion	18
frameshift substitution	2
nonframeshift deletion	5
nonsynonymous SNV	57
splicing	19
stopgain	29

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.