Publication Details

Results for O’Roak2014:

Title Recurrent de novo mutations implicate novel genes underlying simplex autism risk
AuthorsO’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.
TechnologyMolecular inversion probes (64 genes)
Variant sourceSupplementary Data 1. Summary of MIP and exome identified de novo mutations in 64 candidate genes.
CohortsSimons Simplex Collection, The Autism Simplex Collection, PMID:23033978, PMID:22495311, PMID:23020937
Subject count152
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 count154
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion24
frameshift insertion18
frameshift substitution2
nonframeshift deletion5
nonsynonymous SNV57

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.