Documentation

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Publication Details

Results for Hashimoto2016:

Summary

Title	Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
Authors	Hashimoto, R., Nakazawa, T., Tsurusaki, Y., Yasuda, Y., Nagayasu, K., Matsumura, K., Kawashima, H., Yamamori, H., Fujimoto, M., Ohi, K., Umeda-Yano, S., Fukunaga, M., Fujino, H., Kasai, A., Hayata-Takano, A., Shintani, N., Takeda, M., Matsumoto, N., Hashi
Technology	Whole exome sequencing
Variant source	Table 1: Mutations with possible contributions to de novo ASD risk
Cohorts	Human Brain Phenotype Consortium in Japan
Design	Simplex
URL	https://dx.doi.org/10.1038/jhg.2015.141
Pubmed	26582266
Subject count	24 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	37
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	27
other	3
stopgain	3
synonymous SNV	4

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.