Documentation

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Publication Details

Results for Zhou2022:

Summary

Title	Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Authors	Zhou, 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.
Technology	Whole exome sequencing, Whole genome sequencing
Variant source	Supplementary Data 1, 2
Cohorts	Simons Simplex Cohort, Autism Sequencing Cohort, SPARK, MSSNG
Design	trios
URL	https://dx.doi.org/10.1038/s41588-022-01148-2
Pubmed	35982159
Subject count	13103 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	23922
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	885
frameshift insertion	402
frameshift substitution	33
nonframeshift deletion	292
nonframeshift insertion	78
nonframeshift substitution	48
nonsynonymous SNV	13824
other	1446
splicing	457
stopgain	1036
stoploss	13
synonymous SNV	5285
unknown	141

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.