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Article

Genotype imputation and variability in polygenic risk score estimation.

Genome medicine - 23 Nov 2020

Chen Shang-Fu, Dias Raquel, Evans Doug, Salfati Elias L, Liu Shuchen, Wineinger Nathan E, Torkamani Ali

Abstract excerpt

BACKGROUND: Polygenic risk scores (PRSs) are a summarization of an individual's genetic risk for a disease or trait. These scores are being generated in research and commercial settings to study how they may be used to guide healthcare decisions. PRSs should be updated as genetic knowledgebases improve; however, no guidelines exist for their generation or updating. METHODS: Here, we characterize the variability...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33225976
DOI: 10.1186/s13073-020-00801-x
PMCID: PMC7682022

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