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

Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS.

International journal of molecular sciences - 5 Aug 2024

Ding Qiliang, Hofich Christopher D, Kellogg Tifani B, Kuennen Rhonda K, Paxton Kaitlin N, Thieke Sarah M, Rumilla Kandelaria M, Hasadsri Linda

Abstract excerpt

Cystic fibrosis is caused by biallelic pathogenic variants in the CFTR gene, which contains a polymorphic (TG)mTn sequence (the "poly-T/TG tract") in intron 9. While T9 and T7 alleles are benign, T5 alleles with longer TG repeats, e.g., (TG)12T5 and (TG)13T5, are clinically significant. Thus, professional medical societies currently recommend reporting the TG repeat size when T5 is detected. Sanger sequencing is...

Read the complete abstract on PubMed

Topics

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

Share to Software
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Genotype

Share to Genotyping Techniques

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 39126101
DOI: 10.3390/ijms25158533
PMCID: PMC11313279

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Accurate and Automated Genotyping of the CFTR Poly-T/TG Tract with CFTR-TIPS.PMID 39126101Read ↗

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTRSemantic proximity Read ↗

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Semantic proximity Read ↗

A comprehensive assay for CFTR mutational analysis using next-generation sequencing.Semantic proximity Read ↗

Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing.Semantic proximity Read ↗

Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.Semantic proximity Read ↗

Clinical investigational studies for validation of a next-generation sequencingin vitrodiagnostic device for cystic fibrosis testingSemantic proximity Read ↗

Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.Semantic proximity Read ↗

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisSemantic proximity Read ↗

A template for mutational data analysis of the CFTR gene.Semantic proximity Read ↗

Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.Semantic proximity Read ↗

Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene.Semantic proximity Read ↗

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of<i>CFTR</i>Semantic proximity Read ↗

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