Publication Details

Results for Antaki2022:

Title A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
AuthorsAntaki, 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.
Technologywhole exome sequencing, whole genome sequencing
Variant sourceSupplementary Table 5: List of dnMIS and dnLoF variants
CohortsSimons Simplex Collection, REACH project at UCSD, SPARK Cohort (PMID: 29420931)
Subject count978
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 count1040
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion211
frameshift insertion82
nonframeshift deletion4
nonsynonymous SNV493
synonymous SNV2

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.