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Publication Details

Results for Cirnigliaro2023:

Summary
Title The contributions of rare inherited and polygenic risk to ASD in multiplex families
AuthorsCirnigliaro, M., Chang, T.S., Arteaga, S.A., Pérez-Cano, L., Ruzzo, E.K., Gordon, A., Bicks, L.K., Jung, J.-Y., Lowe, J.K., Wall, D.P., Geschwind, D.H.
TechnologyWGS
Variant sourceSupplementary Data S2
CohortsAutism Genetic Resource Exchange
Designmultiplex
URLhttps://dx.doi.org/10.1073/pnas.2215632120
Pubmed37506195
Subject count1563
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 count13590
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion3867
frameshift insertion1588
nonframeshift deletion60
nonsynonymous SNV260
other137
splicing2741
stopgain4858
stoploss7
synonymous SNV3
unknown70

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.