Article
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
Human genomics - 8 Sept 2022
Lopez-Pineda Arturo, Vernekar Manvi, Moreno-Grau Sonia, Rojas-Muñoz Agustin, Moatamed Babak, Lee Ming Ta Michael, Nava-Aguilar Marco A, Gonzalez-Arroyo Gilberto, Numakura Kensuke, Matsuda Yuta, Ioannidis Alexander, Katsanis Nicholas, Takano Tomohiro, Bustamante Carlos D
Abstract excerpt
INTRODUCTION: A major challenge to enabling precision health at a global scale is the bias between those who enroll in state sponsored genomic research and those suffering from chronic disease. More than 30 million people have been genotyped by direct-to-consumer (DTC) companies such as 23andMe, Ancestry DNA, and MyHeritage, providing a potential mechanism for democratizing access to medical interventions and...
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