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A Complete Diploid Human Genome Benchmark for Personalized Genomics

Hansen, Nancy F. et al.
ODU Digital Commons · Papers
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genomehumanssequence-analysis
Human genome sequencing typically relies on mapping reads to a reference genome to call variants, but this approach introduces technical biases, excluding duplicated and structurally polymorphic regions of the genome. To overcome this, we present a telomere-to-telomere genome benchmark with near-per
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