Documentation

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Publication Details

Results for Yamamoto2019:

Summary

Title	Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders
Authors	Yamamoto, T., Imaizumi, T., Yamamoto-Shimojima, K., Lu, Y., Yanagishita, T., Shimada, S., Chong, P.F., Kira, R., Ueda, R., Ishiyama, A., Takeshita, E., Momosaki, K., Ozasa, S., Akiyama, T., Kobayashi, K., Oomatsu, H., Kitahara, H., Yamaguchi, T., Imai, K.
Technology	Targeted sequencing
Variant source	Table S1: Summary of the genotypes and phenotypes of the patients
Cohorts	Japanese patients
Design	Simplex
URL	https://dx.doi.org/10.1016/j.braindev.2019.05.007
Pubmed	31171384
Subject count	10 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	10
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
nonsynonymous SNV	5
splicing	1
stopgain	2

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.