Diploid genome benchmark covers 99.4% of HG002 genome with phased haplotypes
A diploid genome benchmark from the Telomere-to-Telomore Consortium covers 99.4% of the HG002 human genome with distinct maternal and paternal haplotypes, according to a paper published in Cell. The T2T-HG002v1.1 assembly achieves telomere-to-telomere continuity for all 46 chromosomes except the interiors of ribosomal DNA arrays. It captures variants in repetitive and duplicated genomic regions that reference-based methods previously missed. The benchmark compares sequence reads directly to the sample's reconstructed diploid assembly rather than calling variants against an external reference.
The benchmark helps laboratories call variants more accurately in difficult stretches of the genome.
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