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Article

Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders.

The Journal of molecular diagnostics : JMD - 1 Apr 2026

Kirchner Rachel E, Pereira Miguel L, Peterson Madilynn M, Berres Mark E, Churpek Jane E

Abstract excerpt

Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders and carry diagnostic and prognostic significance. Detection of these variants is challenging because of low variant allele frequencies (VAFs) and high GC content. The sensitivity of long-read amplicon sequencing with deepSNV analysis, referred to as LR-deep AmpSeq, for TERTp variant detection was tested....

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Share to Clonal Hematopoiesis
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GC gene

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Promoter Regions, Genetic

Share to Telomerase

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Source

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Identifiers

PMID: 41654254
DOI: 10.1016/j.jmoldx.2026.01.005
PMCID: PMC13061533

Genes

TERT
GC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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