Publication Details

Results for Callaghan2019:

Title Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort
AuthorsCallaghan, D.B., Rogic, S., Tan, P.P.C., Calli, K., Qiao, Y., Baldwin, R., Jacobson, M., Belmadani, M., Holmes, N., Yu, C., Li, Yanchen, Li, Yingrui, Kurtzke, F.-E., Kuzeljevic, B., Yu, A.Y., Hudson, M., Mcaughton, A.J.M., Xu, Y., Dionne‐Laporte, A., Gira
TechnologyWhole genome sequencing
Variant sourceSupplementary Table 6
DesignSimplex and multiplex
Subject count82
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 count131
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion26
frameshift insertion9
nonsynonymous SNV64

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.