Tom Mokveld

Human de novo mutation rates from a four-generation pedigree reference

David Porubskỳ, Harriet Dashnow, Thomas A. Sasani et al. · Nature · 2025 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

Wolfram Höps, Marjan M. Weiss, Ronny Derks et al. · The American Journal of Human Genetics · 2025 · 31 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

CHOP: haplotype-aware path indexing in population graphs

Tom Mokveld, Jasper Linthorst, Zaid Al-Ars et al. · Genome biology · 2020 · 17 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Defining a tandem repeat catalog and variation clusters for genome-wide analyses

Ben Weisburd, Egor Dolzhenko, Mark F. Bennett et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2024 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The Platinum Pedigree: a long-read benchmark for genetic variants

Zev Kronenberg, C. Nolan, David Porubskỳ et al. · Nature Methods · 2025 · 12 citations · Full text

Life Sciences, Bioinformatics, Genetics +16