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Article

Efficient genome-wide association in biobanks using topic modeling identifies multiple novel disease loci.

Molecular medicine (Cambridge, Mass.) - 1 Nov 2017

McCoy Thomas H, Castro Victor M, Snapper Leslie A, Hart Kamber L, Perlis Roy H

Abstract excerpt

Biobanks and national registries represent a powerful tool for genomic discovery, but rely on diagnostic codes that may be unreliable and fail to capture the relationship between related diagnoses. We developed an efficient means of conducting genome-wide association studies using combinations of diagnostic codes from electronic health records (EHR) for 10845 participants in a biobanking program at two large...

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Identifiers

PMID: 28861588
DOI: 10.2119/molmed.2017.00100
PMCID: PMC5681697

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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