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The Phenotype-Genotype Reference Map: Improving biobank data science through replication

2022-09-08

Abstract excerpt

Population-scale biobanks linked to electronic health record data provide vast opportunity to extend our knowledge of human genetics. While biobanks have already proven their value to research, data quality remains an important concern. Here we introduce the phenotype-genotype reference map (PGRM), a set of 5,879 genetic associations from 523 GWAS publications that can be used for high-throughput replication exper...

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Literature Corpus work
bafef169-033d-526b-a55e-d2a94939b732
DOI
10.1101/2022.09.07.506932
Open publication

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The Phenotype-Genotype Reference Map: Improving biobank data science through replicationDOI 10.1101/2022.09.07.506932
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