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Article

Mining the human phenome using semantic web technologies: a case study for Type 2 Diabetes.

AMIA ... Annual Symposium proceedings. AMIA Symposium - 1 Jan 2012

Pathak Jyotishman, Kiefer Richard C, Bielinski Suzette J, Chute Christopher G

Abstract excerpt

The ability to conduct genome-wide association studies (GWAS) has enabled new exploration of how genetic variations contribute to health and disease etiology. However, historically GWAS have been limited by inadequate sample size due to associated costs for genotyping and phenotyping of study subjects. This has prompted several academic medical centers to form "biobanks" where biospecimens linked to personal...

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PMID: 23304343
PMCID: PMC3540447

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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