Documentation

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Publication Details

Results for Takata2018:

Summary

Title	Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Authors	Takata, A., Miyake, N., Tsurusaki, Y., Fukai, R., Miyatake, S., Koshimizu, E., Kushima, I., Okada, T., Morikawa, M., Uno, Y., Ishizuka, K., Nakamura, K., Tsujii, M., Yoshikawa, T., Toyota, T., Okamoto, N., Hiraki, Y., Hashimoto, R., Yasuda, Y., Saitoh, S.
Technology	Whole exome sequencing
Variant source	Table S1. Full list of 322 high-confidence DNMs in our cohort of 262 ASD trios, Related to Figure 1 and Table 1
Cohorts	Japan
Design	Simplex
URL	https://dx.doi.org/10.1016/j.celrep.2017.12.074
Pubmed	29346770
Subject count	178 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	327
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	15
frameshift insertion	9
nonframeshift deletion	1
nonframeshift insertion	1
nonsynonymous SNV	196
other	3
splicing	11
stopgain	20
synonymous SNV	70
unknown	1

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.