Publication Details

Results for Patowary2019:

Title Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
AuthorsPatowary, A., Won, S.Y., Oh, S.J., Nesbitt, R.R., Archer, M., Nickerson, D., Raskind, W.H., Bernier, R., Lee, J.E., Brkanac, Z.
TechnologyWhole exome sequencing
Variant sourceSupplementary Table 2: Private variants shared by the affected cousins of each exome-sequenced family.
CohortsNIMH repository
Subject count20
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 count144
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV136

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.