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science

LongPhase-TO reconstructs tumour haplotypes from tumour-only DNA

A bioRxiv preprint presents LongPhase-TO, a long-read method for reconstructing somatic haplotypes from tumour samples without matched normal DNA. In tests on eight datasets from six cancer cell lines, the method lengthened haplotype blocks and improved somatic variant-calling scores.

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health

Blood cfDNA matched marrow signals in multiple myeloma study

A medRxiv preprint compared matched blood and bone-marrow cell-free DNA from 74 people with multiple myeloma. Peripheral-blood cfDNA matched or exceeded marrow-plasma cfDNA for several genomic signals, while fragment patterns varied by sample compartment and handling.