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

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.

Scientific reports - 1 Nov 2023

Shil Apurba, Levin Liron, Golan Hava, Meiri Gal, Michaelovski Analya, Sadaka Yair, Aran Adi, Dinstein Ilan, Menashe Idan

Abstract excerpt

Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs). However, interpreting...

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 Computational Biology

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

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Genomics

Source

Open in PubMed Open full text

Identifiers

PMID: 37914828
DOI: 10.1038/s41598-023-46258-x
PMCID: PMC10620213

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

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.PMID 37914828Read ↗

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing dataSemantic proximity Read ↗

<i>AutScore</i> – An integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing dataSemantic proximity Read ↗

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.Semantic proximity Read ↗

Molecular diagnosis of 405 individuals with autism spectrum disorder.Semantic proximity Read ↗

Genomic architecture of autism from comprehensive whole-genome sequence annotation.Semantic proximity Read ↗

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

Reanalysis of Trio Whole Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in HalfSemantic proximity Read ↗

Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.Semantic proximity Read ↗

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

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotationSemantic proximity Read ↗

High-throughput sequencing of autism spectrum disorders comes of age.Semantic proximity Read ↗

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Semantic proximity Read ↗

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