William J. Rowell

1. Human de novo mutation rates from a four-generation pedigree reference
   2025/04/23 by David Porubskỳ, Harriet Dashnow, Thomas A. Sasani +44 · 1 voice · 10 citations
   Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Genomics and Phylogenetic Studies #Genomics and Rare Diseases
2. Sawfish: improving long-read structural variant discovery and genotyping with local haplotype modeling
   2025/03/29 by Christopher T. Saunders, James Holt, Daniel N. Baker +5 · 1 voice · 8 citations
   Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genomics and Phylogenetic Studies #Genetic Associations and Epidemiology
3. HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing
   2024/01/25 by James Holt, Christopher T. Saunders, William J. Rowell +3 · 1 voice · 6 citations
   Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genetic Neurodegenerative Diseases #Genomics and Phylogenetic Studies #Genomics and Rare Diseases