Publication Details

Results for Wilfert2021:

Title Recent ultra-rare inherited variants implicate new autism candidate risk genes
AuthorsWilfert, B.A., Turner, N.T., Murali, S.C., Hsieh, P., Sulovari, A., Wang, T., Coe, B.P., Guo, H., Hoekzema, K., Bakken, T.E., Witerkorn, L.H., Evani, U.S., Byrska-Bishop, M., Earl, R.K., Bernier, R.A., Zody, M.C., Eichler, E.E.
TechnologyWhole Genome Sequencing
Variant sourceSupplementary Table 2: List of DNMs tested for validation
CohortsIndividuals enrolled in the Autism Genetic Resource Exchange, The Autism Simplex Collection, the Study of Autism Genetics Exploration and Simons Simplex Collection
Designmultiplex, simplex
Subject count1122
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 count1918
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion102
frameshift insertion53
nonframeshift deletion17
nonframeshift insertion5
nonsynonymous SNV791
synonymous SNV225

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.