Publication Details

Results for Yuen2017:

Title Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
AuthorsC Yuen, R.K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R.V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., Pellecchia, G., Buchanan, J.A., Walker, S., Marshall, C.R., Uddin, M., Zarrei, M., Deneault, E., D’Abate, L., Chan, A.
TechnologyWhole genome sequencing
Variant sourceSupplementary Table 3: All de novo variants detected
CohortsAutism Genetic Resource Exchange, Autism Treatment Network, ASD: Genomes to Outcomes Study, Baby Siblings Research Consortium, The Autism Simplex Collection, Infant Sibling Study, The Autism Simplex Collection, Pathways in ASD,
Subject count1627
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 count140304
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion69
frameshift insertion32
nonframeshift deletion46
nonframeshift insertion4
nonsynonymous SNV1271
synonymous SNV495

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.