Documentation

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Publication Details

Results for Yalcintepe2021:

Summary

Title	Investigation the etiology of syndromic autism with targeted gene analysis
Authors	Yalcintepe, S., Gurkan, H., Demir, S., Bozatli, L., Atli, E., Altay, M.A., Atli, E.I., Aykutlu, H.C., Eker, D., Mail, C., Gorker, I.
Technology	targeted sequencing
Variant source	Table 1. Cases with pathogenic/likely pathogenic variants and variants of unknown clinical significance in the current study
Cohorts	Department of Child Psychiatry, Faculty of Medicine, Edirne, Turkey
Design	simplex
URL	https://dx.doi.org/10.5455/annalsmedres.2021.03.240
Pubmed
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	14
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonframeshift deletion	1
nonsynonymous SNV	12
splicing	1

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.