Documentation

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Publication Details

Results for Viggiano2024:

Summary

Title	Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Authors	Viggiano, M., Ceroni, F., Visconti, P., Posar, A., Scaduto, M.C., Sandoni, L., Baravelli, I., Cameli, C., Rochat, M.J., Maresca, A., Vaisfeld, A., Gentilini, D., Calzari, L., Carelli, V., Zody, M.C., Maestrini, E., Bacchelli, E.
Technology	WES/WGS
Variant source	Supplementary tables 4, 11 and 12
Cohorts	UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy
Design	simplex/multiplex
URL	https://dx.doi.org/10.1038/s41525-024-00411-1
Pubmed	38519481
Subject count	62 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	80
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	2
nonsynonymous SNV	71
stopgain	7

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.