Documentation

or

Publication Details

Results for Kim2024:

Summary

Title	Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
Authors	Kim, S.-W., Lee, H., Song, D.Y., Lee, G.-H., Ji, J., Park, J.W., Han, J.H., Lee, J.W., Byun, H.J., Son, J.H., Kim, Y.R., Lee, Y., Kim, J., Jung, A., Lee, J., Kim, Eunha, Kim, S.H., Lee, J.H., Satterstrom, F.K., Girirajan, S., Børglum, A.D., Grove, J., Kim, Eunjoon, Werling, D.M., Yoo, H.J., An, J.-Y.
Technology	WGS
Variant source	Table 2A and 1C
Cohorts	Seoul National University Bundang Hospital, Soon Chun Hyang University Hospital Bucheon and Seoul Child Hospital
Design	simplex, multiplex
URL	https://dx.doi.org/10.1186/s13073-024-01385-6
Pubmed	39334436
Subject count	696 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	46773
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	39
frameshift insertion	14
nonframeshift deletion	8
nonframeshift insertion	1
nonsynonymous SNV	523
other	45949
splicing	12
stopgain	36
stoploss	1
synonymous SNV	184
unknown	8

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.