Documentation

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Publication Details

Results for Cirnigliaro2023:

Summary

Title	The contributions of rare inherited and polygenic risk to ASD in multiplex families
Authors	Cirnigliaro, 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.
Technology	WGS
Variant source	Supplementary Data S2
Cohorts	Autism Genetic Resource Exchange
Design	multiplex
URL	https://dx.doi.org/10.1073/pnas.2215632120
Pubmed	37506195
Subject count	1563 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	13590
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	3867
frameshift insertion	1588
nonframeshift deletion	60
nonsynonymous SNV	260
other	137
splicing	2741
stopgain	4858
stoploss	7
synonymous SNV	3
unknown	70

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.