Documentation

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Publication Details

Results for O’Roak2012a:

Summary

Title	Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Authors	O’Roak, B.J., Vives, L., Fu, W., Egertson, J.D., Stanaway, I.B., Phelps, I.G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., Munson, J., Hiatt, J.B., Turner, E.H., Levy, R., O’Day, D.R., Krumm, N., Coe, B.P., Martin, B.K., Borenstein, E., Nickerson, D.A.
Technology	Multiplex targeted sequencing (44 genes)
Variant source	Table S11. Genes with recurrent de novo mutation in ASD probands, Table S15. Inherited truncation/splice events identified in ASD probands.
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1126/science.1227764
Pubmed	23160955
Subject count	68 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	68
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	13
frameshift insertion	9
nonframeshift deletion	1
nonsynonymous SNV	21
splicing	8
stopgain	16

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.