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M. C. Schatz

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Open access Aug 2026

A complete diploid human genome benchmark for personalized genomics

A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.

Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji et al. · 8 citations
Open access Aug 2026

A high-resolution human pangenome structural variant resource for improved disease association

This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.

J. Lin, J. Gustafson, J. Wertz et al. · 0 citations

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