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Article

Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies.

Journal of genetic counseling - 1 Jun 2023

Roloff Gregory W, Shaw Reid, O'Connor Timothy E, Hathaway Feighanne, Drazer Michael W

Abstract excerpt

Hereditary hematopoietic malignancies (HHMs) are inherited syndromes that confer the risk of blood cancer development. With the rapid acceleration of next-generation sequencing (NGS) into commercial biotechnology markets, HHMs are increasingly recognized by genetic counselors and clinicians. In 2020, it was demonstrated that most diagnostic test offerings for HHMs were insufficient for accurate diagnosis, failing...

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Identifiers

PMID: 36642751
DOI: 10.1002/jgc4.1672
PMCID: PMC11310923

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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.

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