Documentation

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Publication Details

Results for Durbagula2024:

Summary

Title	Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing
Authors	Durbagula, S., Parambath, S.V., Murthy, A.S.N., K, M.R., Kasturirangan, C.G., Udupi, G.A., Ramachandra, N.B., Sosalegowda, A.H., Raman, V., Korlimarla, A., Gowda, N.K.C.
Technology	WES
Variant source	Supplementary Tables 2-3
Cohorts	St John’s Research Institute, Bangalore, Karnataka, India
Design	simplex
URL	https://dx.doi.org/10.1136/gpsych-2024-101606
Pubmed	39534727
Subject count	26 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	980
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	102
frameshift insertion	56
nonframeshift deletion	5
nonsynonymous SNV	660
other	53
splicing	1
stopgain	80
stoploss	5
synonymous SNV	8
unknown	10

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.