Article

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

2023-10-13

Abstract excerpt

Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping, SNP-array and FISH. Optical genome mapping (OGM) may replace these as it detects different types of structural aberrations simultaneously and additionally detects much smaller aberrations (500 bp vs. 5–10 Mb with karyotyping). However, its resolution may still be too low to d...

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Literature Corpus work: ee4b3afc-eb18-5d6b-9041-0640c7c0a695
DOI: 10.21203/rs.3.rs-3310466/v1

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