![]() The five participating sites include Group Health Cooperative − University of Washington, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University. In 2007, National Human Genome Research Institute (NHGRI) funded the Electronic Medical Records and Genomics (eMERGE) consortium to develop and implement approaches for leveraging biorepositories with EMR systems for large-scale genomic research, including but not limited to genome-wide association studies (GWAS), sequencing, and structural variation. Such an approach may reduce the time, effort, and cost involved in conducting genomic studies to identify disease susceptibility loci. Repositories of DNA from patients seen in the clinical setting can be matched with the EMR and genotyping/sequencing conducted to identify genetic variants associated with human diseases as well as related quantitative traits. Consequently, there is considerable interest in leveraging the electronic medical record (EMR) for high-throughput phenotyping of diseases and medically relevant traits. Three of these loci ( HBLS1/MYB, TMPRSS6, and HFE) had been identified in recent GWAS and the allele frequencies, effect sizes, and the directions of effects of the replicated SNPs were similar to the prior studies.Īs costs of genotyping continue to drop, accurate phenotyping is emerging as the rate-limiting step for conducting genomic studies. We identified four genomic loci that were associated ( P<5×10 −8) with one or more of the RBC traits ( HBLS1/MYB on 6q23.3, TMPRSS6 on 22q12.3, HFE on 6p22.1, and SLC17A1 on 6p22.2). The median of each RBC trait was used in the genetic analyses, which were conducted using an additive model that adjusted for age, sex, and PAD status. Out of 35,159 RBC trait values in 3,411 patients, we excluded 12,864 values in 1,165 patients that had been measured during hospitalization or in the setting of hematological disease, malignancy, or use of drugs that affect RBC traits, leaving a final genotyped sample of 3,012, 80% of whom had ≥2 measurements. Results for hemoglobin level, hematocrit, RBC count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration were extracted from the EMR from January 1994 to September 2009.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |