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Publication Details

Results for Chan2022:

Summary
Title Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
AuthorsChan, 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.
TechnologyWGS
Variant sourceSupData 5,7,17
CohortsCanadian children from Newfoundland and Labrador
Designsimplex
URLhttps://dx.doi.org/https://doi.org/10.1038/s41467-022-34112-z
Pubmed36309498
Subject count63
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 count64
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion21
frameshift insertion6
frameshift substitution1
nonsynonymous SNV17
splicing6
stopgain13

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.