Publication Details

Results for Sandoval-Talamantes2023:

Title NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
AuthorsSandoval-Talamantes, A.K., Tenorio-Castaño, J.A., Santos-Simarro, F., Adán, C., Fernández-Elvira, M., García-Fernández, L., Muñoz, Y., Lapunzina, P., Nevado, J.
TechnologyTargeted sequencing
Variant sourceTables 1 and 2
CohortsLa Paz University Hospital in Madrid, Spain
Subject count20
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 count23
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion2
nonframeshift insertion1
nonsynonymous SNV19

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.