Documentation

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Publication Details

Results for Bruno2021:

Summary

Title	New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
Authors	Bruno, 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.
Technology	whole-exome sequencing
Variant source	Table S3. Molecular information of the variants
Cohorts	Medical Genetics department of the University of Siena
Design	Trios
URL	https://dx.doi.org/10.3390/ijms222413439
Pubmed	34948243
Subject count	13 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	26
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	1
frameshift insertion	2
nonframeshift deletion	4
nonsynonymous SNV	15
other	2
splicing	2

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.