Publication Details

Results for Miyake2023:

Title Molecular diagnosis of 405 individuals with autism spectrum disorder
AuthorsMiyake, 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.
Variant sourceSupplementary Table 2
Cohortsmulti-centre cohort from Japan
Designtrios and quads
Subject count53
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 count55
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion5
frameshift insertion2
frameshift substitution1
nonframeshift substitution2
nonsynonymous SNV36

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.