Documentation

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Publication Details

Results for Miyake2023:

Summary

Title	Molecular diagnosis of 405 individuals with autism spectrum disorder
Authors	Miyake, N., Tsurusaki, Y., Fukai, R., Kushima, I., Okamoto, N., Ohashi, K., Nakamura, Kazuhiko, Hashimoto, R., Hiraki, Y., Son, S., Kato, M., Sakai, Y., Osaka, H., Deguchi, K., Matsuishi, T., Takeshita, S., Fattal-Valevski, A., Ekhilevitch, N., Tohyama, J., Yap, P., Keng, W.T., Kobayashi, H., Takubo, K., Okada, T., Saitoh, S., Yasuda, Y., Murai, T., Nakamura, Kazuyuki, Ohga, S., Matsumoto, A., Inoue, K., Saikusa, T., Hershkovitz, T., Kobayashi, Y., Morikawa, M., Ito, A., Hara, T., Uno, Y., Seiwa, C., Ishizuka, K., Shirahata, E., Fujita, A., Koshimizu, E., Miyatake, S., Takata, A., Mizuguchi, T., Ozaki, N., Matsumoto, N.
Technology	WES
Variant source	Supplementary Table 2
Cohorts	multi-centre cohort from Japan
Design	trios and quads
URL	https://dx.doi.org/10.1038/s41431-023-01335-7
Pubmed	36973392
Subject count	53 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	55
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	5
frameshift insertion	2
frameshift substitution	1
nonframeshift substitution	2
nonsynonymous SNV	36
other	1
splicing	4
stopgain	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.