Prioritizing the detection of rare pathogenic variants in population screening
Paul Lacaze, Ranjit Manchanda, Robert C. Green
Topics & Concepts
Polygenic risk scoreBiologyPopulationGenetic testingGeneticsGenotypeMedicineGeneEnvironmental healthSingle-nucleotide polymorphismGenomics and Rare DiseasesBRCA gene mutations in cancerGenomic variations and chromosomal abnormalities