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

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.

International journal of molecular sciences - 13 May 2026

Khojakulov Zakhiriddin, Palvadeau Robin J, Kovancılar-Koç Müge, Atay Irmak, Şahbaz Irmak, Tekgül Şeyma, Şahin Ayça, Badakal Esmer Zeynep Duru, Gül-Demirkale Tuğçe, Çiftçi Vildan, Bayraktar Elif, Tunca Ceren, Smolina Natalia, Akçimen Fulya, Başak Ayşe Nazlı

Abstract excerpt

Short tandem repeat (STR) expansions are a major cause of neurodegenerative disorders; however, their genetic and clinical heterogeneity complicates diagnosis. STR detection remains limited in routine short-read next-generation sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical utility of computational STR genotyping in a large Turkish neurodegenerative disease cohort. ExpansionHunter was...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repeat Expansion

Share to Genotyping Techniques

Share to High-Throughput Nucleotide Sequencing

Share to Microsatellite Repeats

Share to Neurodegenerative Diseases

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 42196324
DOI: 10.3390/ijms27104345
PMCID: PMC13207311

Genes

ATXN2
AR
ATN1
ATXN1
CACNA1A
DMPK
HTT
PABPN1
TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort.PMID 42196324Read ↗

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a large Turkish Neurodegeneration CohortSemantic proximity Read ↗

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.Semantic proximity Read ↗

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat ExpansionsSemantic proximity Read ↗

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yieldSemantic proximity Read ↗

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.Semantic proximity Read ↗

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnosticsSemantic proximity Read ↗

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing dataSemantic proximity Read ↗

Short tandem repeat expansions in patients with neurodegenerative dementia.Semantic proximity Read ↗

Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategiesSemantic proximity Read ↗

Recent advances in the detection of repeat expansions with short-read next-generation sequencingSemantic proximity Read ↗

A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort.Semantic proximity Read ↗

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.Semantic proximity Read ↗

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