Publication Details

Results for Lo2022:

Title Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
AuthorsLo, T., Kushima, I., Aleksic, B., Kato, H., Nawa, Y., Hayashi, Y., Otgonbayar, G., Kimura, H., Arioka, Y., Mori, D., Ozaki, N.
Technologytargeted sequencing
Variant sourceTable 1. Detail information of 25 rare missense variants discovered in the current study
CohortsNagoya University Hospital and co-hospitals in Japan
Subject count17
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 count17
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV17

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.