Documentation

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Publication Details

Results for Antaki2022:

Summary

Title	A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
Authors	Antaki, D., Guevara, J., Maihofer, A.X., Klein, M., Gujral, M., Grove, J., Carey, C.E., Hong, O., Arranz, M.J., Hervas, A., Corsello, C., Vaux, K.K., Muotri, A.R., Iakoucheva, L.M., Courchesne, E., Pierce, K., Gleeson, J.G., Robinson, E.B., Nievergelt, C.M., Sebat, J.
Technology	whole exome sequencing, whole genome sequencing
Variant source	Supplementary Table 5: List of dnMIS and dnLoF variants
Cohorts	Simons Simplex Collection, REACH project at UCSD, SPARK Cohort (PMID: 29420931)
Design	Case-control
URL	https://dx.doi.org/10.1038/s41588-022-01064-5
Pubmed	35654974
Subject count	978 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	1040
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	211
frameshift insertion	82
nonframeshift deletion	4
nonsynonymous SNV	493
other	7
splicing	36
stopgain	201
stoploss	2
synonymous SNV	2
unknown	3

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.