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Wakhan: reconstruction of chromosome-scale copy number profiles of tumor genomes with long-read sequencing

2025-12-15 genetic and genomic medicine Title + abstract only
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A common signature of cancer genomes is a complex, rearranged karyotype, characterized by acquired gains or losses of chromosomal material, referred to as somatic copy number alterations (CNAs). Identification of haplotype-specific CNAs from bulk sequencing data is a key step in many short-read cancer genomic workflows; however, short reads have a limited phasing range. In contrast, long reads can directly phase genomic variants into contiguous haplotypes. Here, we present Wakhan, a long-read me...

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