Clinical Utility of Combined Optical Genome Mapping and 523-gene Next Generation Sequencing Panel For Comprehensive Evaluation of Myeloid Cancers

Abstract excerpt

The standard-of-care (SOC) for genomic testing of myeloid cancers primarily relies on karyotyping and fluorescent in situ hydridization (FISH) (cytogenetic analysis) and targeted gene panels (≤54 genes) that harbor hotspot pathogenic variants (molecular genetic analysis). Both cytogenetic and molecular testing workup is necessary for the identification and detection of large structural variants (SVs) and small var...

Topics

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• Acute Myeloid Leukemia Research
• Cancer Genomics and Diagnostics
• Genomic variations and chromosomal abnormalities
• Hematologic Neoplasms
• High-Throughput Nucleotide Sequencing
• Leukemia, Myeloid, Acute
• Mutation
• Myelodysplastic Syndromes

Identifiers and source

Literature Corpus work

4ffca21d-e8e5-5bbf-ab98-21eee8031de9

DOI

10.1101/2022.01.15.22269355