Inferring compound heterozygosity from large-scale exome sequencing data Article

Guo, Michael H, Francioli, Laurent C, Stenton, Sarah L et al. (2024). Inferring compound heterozygosity from large-scale exome sequencing data . 56(1), 10.1038/s41588-023-01608-3

Open Access International Collaboration

cited authors

  • Guo, Michael H; Francioli, Laurent C; Stenton, Sarah L; Goodrich, Julia K; Watts, Nicholas A; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M; Hirschhorn, Joel N; Rehm, Heidi L; Daly, Mark J; O'Donnell-Luria, Anne; Karczewski, Konrad J; MacArthur, Daniel G; Samocha, Kaitlin E

sustainable development goals

authors

publication date

  • January 1, 2024

keywords

  • Genetics & Heredity
  • HAPLOTYPE
  • Life Sciences & Biomedicine
  • MUTATION-RATE
  • PATHOGENICITY
  • Science & Technology

Digital Object Identifier (DOI)

publisher

  • NATURE PORTFOLIO

volume

  • 56

issue

  • 1