Documentation

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Publication Details

Results for Granata2024:

Summary

Title	Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Authors	Granata, P., Zito, A., Cocciadiferro, D., Novelli, A., Pessina, C., Mazza, T., Ferri, M., Piccinelli, P., Luoni, C., Termine, C., Fasano, M., Casalone, R.
Technology	WES
Variant source	Supplementary Table 1
Cohorts	Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit, Varese, Italy
Design	trios
URL	https://dx.doi.org/10.1186/s12864-024-11077-5
Pubmed	39654053
Subject count	104 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	372
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	7
frameshift insertion	7
nonframeshift deletion	3
nonframeshift insertion	4
nonsynonymous SNV	315
other	21
splicing	8
stopgain	5
unknown	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.