reviewTop 1% cited
The personal and clinical utility of polygenic risk scores
Nature Reviews Genetics · 2018 · Vol. 19(9) · pp. 581–590
Ali Torkamani✉(Scripps Research Institute)Nathan E. Wineinger(Scripps Research Institute)Eric J. Topol(Scripps Research Institute)
Genetic Associations and EpidemiologyBRCA gene mutations in cancerGenomics and Rare DiseasesGenetic architecturePersonalized medicineDiseaseBiologyProfiling (computer programming)Polygenic risk scoreGenome-wide association studyMultifactorial InheritancePersonal genomicsProbabilistic logic
MeSH terms
Genetic TestingHumansRisk FactorsGenetic Predisposition to DiseaseMultifactorial InheritanceGenome-Wide Association StudyPrecision Medicine
Funding
- National Institutes of Health
- National Center for Advancing Translational Sciences
Citations
1,681
FWCI
120.43
field-weighted impact
References
101
Percentile
100%
vs. same field & year
Citations per year
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References
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Common SNPs explain a large proportion of the heritability for human height
Nature Genetics · 2010 · 4,788 citations
Five Years of GWAS Discovery
The American Journal of Human Genetics · 2012 · 2,534 citations
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