or
or
Exact

Publication Details

Results for Ohashi2021:

Summary
Title Comprehensive Genetic Analysis of Non‑syndromic Autism Spectrum Disorder in Clinical Settings
AuthorsOhashi, K., Fukuhara, S., Miyachi, T.,  Asai, T.,  Imaeda, M.,  Goto, M., Kurokawa, Y., Anzai, T. , Tsurusaki, Y., Miyake, N., Matsumoto, N.,  Yamagata, T., Saitoh, S.
TechnologyWhole-exome sequencing and Targeted sequencing
Variant sourceTables: 3, 5
CohortsNagoya City University Hospital
Designsimplex
URLhttps://dx.doi.org/https://doi.org/10.1007/s10803-021-04910-3
Pubmed33590427
Subject count9
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 count9
Curation notesView
Breakdown by exonic function
FunctionVariant Count
nonsynonymous SNV7
other1
stopgain1

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.