Using species richness calculations to model the global profile of unsampled pathogenic variants: examples from brca1 and brca2

HIGHLIGHTS

• who: Nandana D. Rao and Brian H. Shirts from the Baty Institute for Precision Medicine (BHS, https:// , Institute for Public Health Genetics, University of Washington, Seattle, Washington, United States of have published the paper: Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2, in the Journal: PLOS ONE of 26/01/2023
• what: The aim of this study was to model the prevalence of germline pathogenic BRCA1/2 variants in different populations around the world and predict their allele frequency spectrum.
• how: For the . . .
  

   

  

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