A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree
David Porubskỳ, Harriet Dashnow, Thomas A. Sasani…·Evan E. Eichler
The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.