Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.

ABSTRACT: Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here, we describe the MSK-IMPACT Heme cohort, a comprehensive data set of somatic alterations from paired tumor and normal DNA using a hybridization capture-based next generation sequencing platform. We highlight patterns of mutations, copy number alterations, and mutation signatures in a broad set of myeloid and lymphoid neoplasms. We also demonstrate the power of appropriate matching to make definit

SUBMITTER: Ptashkin RN 

PROVIDER: S-EPMC10613284 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature