Documentation

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Publication Details

Results for Chan2022:

Summary

Title	Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Authors	Chan, A.J.S., Engchuan, W., Reuter, M.S., Wang, Z., Thiruvahindrapuram, B., Trost, B., Nalpathamkalam, T., Negrijn, C., Lamoureux, S., Pellecchia, G., Patel, R.V., Sung, W.W.L., MacDonald, J.R., Howe, J.L., Vorstman, J., Sondheimer, N., Takahashi, N., Miles, J.H., Anagnostou, E., Tammimies, K., Zarrei, M., Merico, D., Stavropoulos, D.J., Yuen, R.K.C., Fernandez, B.A., Scherer, S.W.
Technology	WGS
Variant source	SupData 5,7,17
Cohorts	Canadian children from Newfoundland and Labrador
Design	simplex
URL	https://dx.doi.org/https://doi.org/10.1038/s41467-022-34112-z
Pubmed	36309498
Subject count	63 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	64
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	21
frameshift insertion	6
frameshift substitution	1
nonsynonymous SNV	17
splicing	6
stopgain	13

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.