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

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.

BMC medical genomics - 25 Jul 2025

Suresh Abhilash, Morton Sarah U, Quiat Daniel, DePalma Steven R, Gorham Joshua M, Brueckner Martina, Tristani-Firouzi Martin, Gelb Bruce D, Seidman Jonathan G, Seidman Christine E

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is an important cause of childhood mortality as well as morbidity in children and adults. While genetic risk contributes to the majority of CHD, most individuals with CHD do not have an identified genetic diagnosis. Short tandem repeat (TR) elements are composed of repeated base pair motifs for 2-6 basepairs that are highly polymorphic in length between individuals....

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Child

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

Share to Congenital heart defects research

Share to Genetic Variation

Share to Genomics and Rare Diseases

Share to Heart Defects, Congenital

Share to Tandem Repeat Sequences

Source

Open in PubMed Open full text

Identifiers

PMID: 40713712
DOI: 10.1186/s12920-025-02191-8
PMCID: PMC12291376

Genes

CACNA1C
EVC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.PMID 40713712Read ↗

Long-read genome sequencing increases genomic yield in congenital heart diseaseSemantic proximity Read ↗

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.Semantic proximity Read ↗

Application of high-throughput sequencing for studying genomic variations in congenital heart disease.Semantic proximity Read ↗

Computational analysis of congenital heart disease associated SNPs: Unveiling their impact on the gene regulatory systemSemantic proximity Read ↗

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genesSemantic proximity Read ↗

Integrated approaches to elucidate the genetic architecture of congenital heart defectsSemantic proximity Read ↗

Computational analysis of congenital heart disease associated SNPs: Unveiling their impact on the gene regulatory systemSemantic proximity Read ↗

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family TriosSemantic proximity Read ↗

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseSemantic proximity Read ↗

Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.Semantic proximity Read ↗

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.Semantic proximity Read ↗

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Semantic proximity Read ↗

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