Article
A complete diploid human genome benchmark for personalized genomics
2025-09-21
Abstract excerpt
Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and structurally polymorphic regions of the genome unmapped. Consequently, existing variant benchmarks, generated by the same methods, fail to assess these complex regions. To address this limitation, we present a telomer...
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Identifiers and source
- Literature Corpus work
- a49da933-71ed-599e-8af3-f7c2677f98f6
- DOI
- 10.1101/2025.09.21.677443