Documentation

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Publication Details

Results for Wilfert2021:

Summary

Title	Recent ultra-rare inherited variants implicate new autism candidate risk genes
Authors	Wilfert, 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.
Technology	Whole Genome Sequencing
Variant source	Supplementary Table 2: List of DNMs tested for validation
Cohorts	Individuals enrolled in the Autism Genetic Resource Exchange, The Autism Simplex Collection, the Study of Autism Genetics Exploration and Simons Simplex Collection
Design	multiplex, simplex
URL	https://dx.doi.org/https://doi.org/10.1038/s41588-021-00899-8
Pubmed	34312540
Subject count	1122 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	1918
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	102
frameshift insertion	53
nonframeshift deletion	17
nonframeshift insertion	5
nonsynonymous SNV	791
other	516
splicing	63
stopgain	130
stoploss	1
synonymous SNV	225
unknown	15

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.