Publication Details

Results for Zhou2022:

Title Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
AuthorsZhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J.B., Obiajulu, J.U., Wright, J.R., Murali, S.C., Xu, S.X., Brueggeman, L., Thomas, T.R., Marchenko, O., Fleisch, C., Barns, S.D., Snyder, L.G., Han, B., Chang, T.S., Turner, T.N., Harvey, W.T., Nishida, A., O’Roak, B.J., Geschwind, D.H., SPARK Consortium, Michaelson, J.J., Volfovsky, N., Eichler, E.E., Shen, Y., Chung, W.K.
TechnologyWhole exome sequencing, Whole genome sequencing
Variant sourceSupplementary Data 1, 2
CohortsSimons Simplex Cohort, Autism Sequencing Cohort, SPARK, MSSNG
Subject count13103
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 count23922
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion885
frameshift insertion402
frameshift substitution33
nonframeshift deletion292
nonframeshift insertion78
nonframeshift substitution48
nonsynonymous SNV13824
synonymous SNV5285

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.