期刊
PERSONALIZED MEDICINE
卷 4, 期 2, 页码 175-182出版社
FUTURE MEDICINE LTD
DOI: 10.2217/17410541.4.2.175
关键词
biobank; clinical phenome scan; common diseases; DNA; phenomic markers; pleiotropy
Large population-based cohorts are ideal for the study of common, complex disorders because they allow characterization of gene-gene and gene-environment interactions. We propose a clinical phenome scanning approach to genotype-phenotype association studies, as this approach acknowledges the heterogeneous nature of common diseases and takes advantage of the unprecedented density of phenotypic data available in population-based DNA biobanks. By analogy to genome-wide scanning, the construction of a clinical phenome scan includes a complete scan of all clinically available information (housed in electronic medical records). This is done on a subject-by-subject basis and the resulting phenomes can subsequently be interrogated for association with a single allele for any given gene. By prioritizing phenotype (rather than genotype), this approach allows investigators to ask the question Which disease is associated with a given gene? rather than Which gene is associated with a given disease?.
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