Documentation

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Publication Details

Results for Iossifov2014:

Summary

Title	The contribution of de novo coding mutations to autism spectrum disorder
Authors	Iossifov, 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
Technology	Whole exome sequencing
Variant source	Supplementary Table 2: List of de novo mutations
Cohorts	Simons Simplex Collection
Design	Simplex
URL	https://dx.doi.org/10.1038/nature13908
Pubmed	25363768
Subject count	1798 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	3386
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	121
frameshift insertion	60
nonframeshift deletion	43
nonframeshift insertion	6
nonsynonymous SNV	1661
other	634
splicing	56
stopgain	148
stoploss	3
synonymous SNV	634
unknown	28

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.