Publication Details

Results for Takata2018:

Title Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
AuthorsTakata, 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.
TechnologyWhole exome sequencing
Variant sourceTable S1. Full list of 322 high-confidence DNMs in our cohort of 262 ASD trios, Related to Figure 1 and Table 1
Subject count178
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 count327
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion15
frameshift insertion9
nonframeshift deletion1
nonframeshift insertion1
nonsynonymous SNV196
synonymous SNV70

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.