Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.

@article{Ritchie2010RobustRO,
  title={Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.},
  author={Marylyn DeRiggi Ritchie and Joshua C. Denny and Dana C. Crawford and Andrea H. Ramirez and Justin B Weiner and Jill M. Pulley and Melissa A. Basford and Kristin Brown-Gentry and Jeffrey R. Balser and Daniel R. Masys and Jonathan L. Haines and Dan M. Roden},
  journal={American journal of human genetics},
  year={2010},
  volume={86 4},
  pages={560-72}
}
Large-scale DNA databanks linked to electronic medical record (EMR) systems have been proposed as an approach for rapidly generating large, diverse cohorts for discovery and replication of genotype-phenotype associations. However, the extent to which such resources are capable of delivering on this promise is unknown. We studied whether an EMR-linked DNA biorepository can be used to detect known genotype-phenotype associations for five diseases. Twenty-one SNPs previously implicated as common… CONTINUE READING
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