Publication Details

Results for Kosmicki2017:

Title Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
AuthorsKosmicki, 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.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 1: ASD and unaffected ASD sibling de novo variants
CohortsExome Aggregation Consortium, PMID:25363760, PMID:25363768
Subject count2944
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 count5829
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion169
frameshift insertion85
nonframeshift deletion54
nonframeshift insertion7
nonsynonymous SNV2777
synonymous SNV1032

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.