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Article

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

The Journal of molecular diagnostics : JMD - 1 Dec 2025

Abel Haley J, Mahgoub Mohamed, Davarapalli Nidhi, Kodgule Rohan, Miller Christopher A, Fulton Robert S, Fronick Catrina, Markovic Christopher, Heath Sharon, Payton Jacqueline E, Jacoby Meagan A, Link Daniel C, Walter Matthew J, Duncavage Eric J, Ley Timothy J, Spencer David H

Abstract excerpt

Whole-genome sequencing (WGS) is a comprehensive approach for the genomic evaluation of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). We recently described a streamlined tumor-only WGS assay (ChromoSeq) that uses Illumina short-read sequencing with targeted analysis to detect the full range of clinically relevant somatic mutations. Here we sought to determine the performance of this targeted...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41016628
DOI: 10.1016/j.jmoldx.2025.09.001
PMCID: PMC12831091

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