Documentation

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Publication Details

Results for Lo2022:

Summary

Title	Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
Authors	Lo, T., Kushima, I., Aleksic, B., Kato, H., Nawa, Y., Hayashi, Y., Otgonbayar, G., Kimura, H., Arioka, Y., Mori, D., Ozaki, N.
Technology	targeted sequencing
Variant source	Table 1. Detail information of 25 rare missense variants discovered in the current study
Cohorts	Nagoya University Hospital and co-hospitals in Japan
Design	Case-control
URL	https://dx.doi.org/10.1080/09540261.2022.2072193
Pubmed	35699097
Subject count	17 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	17
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	17

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.