Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.

PloS one - 1 Jan 2023

Rihar Nika, Krgovic Danijela, Kokalj-Vokač Nadja, Stangler-Herodez Spela, Zorc Minja, Dovc Peter

Abstract excerpt

Gene- burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This approach is also suitable for complex disorders like autism spectrum disorder (ASD). The gene-burden analysis using Testing Rare Variants with Public Data (TRAPD) software was conducted on whole exome sequencing data of Slovenian patients with ASD to determine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ligands

Share to Mutation

Share to Protein Phosphatase 2

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 37167322
DOI: 10.1371/journal.pone.0273957
PMCID: PMC10174571

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis.PMID 37167322Read ↗

Prevalence and Phenotypic Impact of Rare Likely Pathogenic Variants in Autism Spectrum DisorderSemantic proximity Read ↗

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.Semantic proximity Read ↗

A Novel Phenotype-based Approach for Prioritizing Candidate Genetic Variants for Autism Spectrum DisorderSemantic proximity Read ↗

Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.Semantic proximity Read ↗

Database-assisted screening of autism spectrum disorder related gene set.Semantic proximity Read ↗

An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.Semantic proximity Read ↗

Identification of Novel Gene variants for Autism Spectrum Disorder in an Indian Patient using Whole Exome SequencingSemantic proximity Read ↗

A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.Semantic proximity Read ↗

Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing.Semantic proximity Read ↗

Identification of genetic variants and their causal association underlying autism spectrum disorderSemantic proximity Read ↗

Genetic Spectrum of Autism Spectrum Disorder Associated Variants in the Indian Population: Insights from 1,029 IndiGenomesSemantic proximity Read ↗

AutDB: a gene reference resource for autism research.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.