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Advances in next-generation sequencing and emerging technologies for hematologic malignancies.

Authors
  • Kwon, Regina1
  • Yeung, Cecilia C S2
  • 1 Department of Laboratory Medicine and Pathology, University of Washington, Seattle.
  • 2 Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA; Translational Science and Therapeutics Division, Fred Hutchinson Cancer Center, Seattle.
Type
Published Article
Journal
Haematologica
Publisher
Ferrata Storti Foundation
Publication Date
Feb 01, 2024
Volume
109
Issue
2
Pages
379–387
Identifiers
DOI: 10.3324/haematol.2022.282442
PMID: 37584286
Source
Medline
Language
English
License
Unknown

Abstract

Innovations in molecular diagnostics have often evolved through the study of hematologic malignancies. Examples include the pioneering characterization of the Philadelphia chromosome by cytogenetics in the 1970s, the implementation of polymerase chain reaction for high-sensitivity detection and monitoring of mutations and, most recently, targeted next- generation sequencing to drive the prognostic and therapeutic assessment of leukemia. Hematologists and hematopath- ologists have continued to advance in the past decade with new innovations improving the type, amount, and quality of data generated for each molecule of nucleic acid. In this review article, we touch on these new developments and discuss their implications for diagnostics in hematopoietic malignancies. We review advances in sequencing platforms and library preparation chemistry that can lead to faster turnaround times, novel sequencing techniques, the development of mobile laboratories with implications for worldwide benefits, the current status of sample types, improvements to quality and reference materials, bioinformatic pipelines, and the integration of machine learning and artificial intelligence into mol- ecular diagnostic tools for hematologic malignancies.

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