or
or
Exact

Publication Details

Results for Yuen2015:

Summary
Title Whole-genome sequencing of quartet families with autism spectrum disorder
AuthorsYuen, R.K.C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., Gazzellone, M.J., D’Abate, L., Deneault, E., Howe, J.L., Liu, R.S.C., Thompson, A., Zarrei, M., Uddin, M., M
TechnologyWhole genome sequencing
Variant sourceSupplementary Table 3. Summary of de novo exonic indels and SNVs
CohortsCanada
DesignMultiplex
URLhttps://dx.doi.org/10.1038/nm.3792
Pubmed25621899
Subject count121
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 count204
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion9
frameshift insertion4
nonsynonymous SNV136
splicing1
stopgain2
synonymous SNV52

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.