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Author

Konrad Scheffler

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Sep 2026

The Genome In A Bottle HG002 assembly-based variant benchmark set enables comprehensive benchmarking of small and structural variants

The Genome in a Bottle (GIAB) Consortium’s HG002 v5.0q benchmark set is presented, a more comprehensive variant benchmark derived from a fully phased, highly curated, and accurate diploid assembly of HG002 to provide confident small- and structural-variant calls across previously inaccessible regions.

Nathan D. Olson, Nathan Dwarshuis, Nancy F. Hansen et al. · 1 citation
Open access Aug 2026

The physicochemical basis of protein evolution: property-informed evolutionary models (PRIME)

PRIME (PRoperty Informed Models of Evolution), a framework of codon-level maximum likelihood methods that explicitly model amino acid exchangeability as a function of physicochemical properties, provides a useful framework for characterizing the mechanistic drivers of protein diversity.

Hannah Kim, Konrad Scheffler, Anton Nekrutenko et al. · 0 citations

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