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Resource

A harmonized public resource of deeply sequenced diverse human genomes

  • Zan Koenig
  • Mary T. Yohannes
  • Lethukuthula L. Nkambule
  • Xuefang Zhao
  • Julia K. Goodrich
  • Heesu Ally Kim Michael W. Wilson Grace Tiao Stephanie P. Hao Nareh Sahakian Katherine R. Chao Mark A. Walker Yunfei Lyu Heidi L. Rehm Benjamin M. Neale Michael E. Talkowski Mark J. Daly
  • ... [+12 authors] ...,
  • Harrison Brand
  • Konrad J. Karczewski
  • Elizabeth G. Atkinson
  • Alicia R. Martin
  • First Published May 15, 2024
Resource

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

  • Elizabeth G. Atkinson
  • Mykyta Artomov
  • Alexander A. Loboda
  • Heidi L. Rehm
  • Daniel G. MacArthur
  • Konrad J. Karczewski
  • Benjamin M. Neale
  • Mark J. Daly
  • First Published May 30, 2023
Research

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

  • Sidi Zhang
  • Kaitlin E. Samocha
  • Manuel A. Rivas
  • Konrad J. Karczewski
  • Emma Daly
  • Ben Schmandt
  • Benjamin M. Neale
  • Daniel G. MacArthur
  • Mark J. Daly
  • First Published June 1, 2018
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