Documentation

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Publication Details

Results for Costa2023:

Summary

Title	Three generation families: Analysis of de novo variants in autism
Authors	Costa, C.I.S., da Silva Campos, G., da Silva Montenegro, E.M., Wang, J.Y.T., Scliar, M., Monfardini, F., Zachi, E.C., Lourenço, N.C.V., Chan, A.J.S., Pereira, S.L., Engchuan, W., Thiruvahindrapuram, B., Zarrei, M., Scherer, S.W., Passos-Bueno, M.R.
Technology	WES
Variant source	Supplemental Table 3
Cohorts	CEGH-CEL
Design	simplex
URL	https://dx.doi.org/https://doi.org/10.1038/s41431-023-01398-6
Pubmed	37280359
Subject count	20 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	37
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
nonsynonymous SNV	31
stopgain	5

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.