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Genotype concordance and polygenic risk score estimation across consumer genetic testing data.

Annals of human genetics - 1 Jul 2020

Batra Prag, Huang Kuan-Lin

Abstract excerpt

The consumer genomics industry is steadily growing and delivering genetic information to over 10 million individuals. Yet, the implications of using data from different services remain unclear. We investigated the genotyped sites, concordance, and genetic risk estimation using data from three consumer services-two single nucleotide polymorphism (SNP)-array based and one sequencing based. In an N-of-one setting,...

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PMID: 32436989
DOI: 10.1111/ahg.12389

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