Publication Details

Results for Krgovic2022:

Title Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
AuthorsKrgovic, D., Gorenjak, M., Rihar, N., Opalic, I., Stangler Herodez, S., Gregoric Kumperscak, H., Dovc, P., Kokalj Vokac, N.
TechnologyWhole exome sequencing
Variant sourceTable 2. Description of patients clinical characteristics for molecular diagnostic referral and identified as pathogenic, likely pathogenic, and VUS variants in the genes.
CohortsSubset of patients with ASD from a large cohort of Slovenian children with NDD (PMID:29930340)
Designsimplex, multiplex, trios
Subject count49
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 count53
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion8
frameshift insertion4
nonsynonymous SNV30
synonymous SNV1

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.