Publication Details

Results for Bruno2021:

Title New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
AuthorsBruno, L.P., Doddato, G., Valentino, F., Baldassarri, M., Tita, R., Fallerini, C., Bruttini, M., Lo Rizzo, C., Mencarelli, M.A., Mari, F., Pinto, A.M., Fava, F., Fabbiani, A., Lamacchia, V., Carrer, A., Caputo, V., Granata, S., Benetti, E., Zguro, K., Furini, S., Renieri, A., Ariani, F.
Technologywhole-exome sequencing
Variant sourceTable S3. Molecular information of the variants
CohortsMedical Genetics department of the University of Siena
Subject count13
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 count26
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion1
frameshift insertion2
nonframeshift deletion4
nonsynonymous SNV15

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.