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Publication Details

Results for Iossifov2014:

Summary
Title The contribution of de novo coding mutations to autism spectrum disorder
AuthorsIossifov, I., O’Roak, B.J., Sanders, S.J., Ronemus, M., Krumm, N., Levy, D., Stessman, H.A., Witherspoon, K.T., Vives, L., Patterson, K.E., Smith, J.D., Paeper, B., Nickerson, D.A., Dea, J., Dong, S., Gonzalez, L.E., Mandell, J.D., Mane, S.M., Murtha, M.T
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 2: List of de novo mutations
CohortsSimons Simplex Collection
DesignSimplex
URLhttps://dx.doi.org/10.1038/nature13908
Pubmed25363768
Subject count1798
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 count3386
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion121
frameshift insertion60
nonframeshift deletion43
nonframeshift insertion6
nonsynonymous SNV1661
other634
splicing56
stopgain148
stoploss3
synonymous SNV634
unknown28

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.