Documentation

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Publication Details

Results for Kosmicki2017:

Summary

Title	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Authors	Kosmicki, J.A., Samocha, K.E., Howrigan, D.P., Sanders, S.J., Slowikowski, K., Lek, M., Karczewski, K.J., Cutler, D.J., Devlin, B., Roeder, K., Buxbaum, J.D., Neale, B.M., MacArthur, D.G., Wall, D.P., Robinson, E.B., Daly, M.J.
Technology	Whole exome sequencing
Variant source	Supplementary Table 1: ASD and unaffected ASD sibling de novo variants
Cohorts	Exome Aggregation Consortium, PMID:25363760, PMID:25363768
Design	Simplex
URL	https://dx.doi.org/10.1038/ng.3789
Pubmed	28191890
Subject count	2944 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	5829
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	169
frameshift insertion	85
nonframeshift deletion	54
nonframeshift insertion	7
nonsynonymous SNV	2777
other	1363
splicing	82
stopgain	240
stoploss	4
synonymous SNV	1032
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.