Mind the gap: resources required to receive, process and interpret research-returned whole genome data.

Crawford DC, Cooke Bailey JN, Briggs FBS,. Most genotype-phenotype studies have historically lacked population diversity, impacting the generalizability of findings and thereby limiting the ability to equitably implement precision medicine. This well-documented problem has generated much interest in the ascertainment of new cohorts with an emphasis on multiple dimensions of diversity, including race/ethnicity, gender, age, […]

Using Electronic Health Records to Generate Phenotypes for Research

Sarah A. Pendergrass and Dana C. Crawford Electronic health records contain patient-level data collected during and for clinical care. Data within the electronic health record include diagnostic billing codes, procedure codes, vital signs, laboratory test results, clinical imaging, and physician notes. With repeated clinic visits, these data are longitudinal, providing important information on disease development, […]

Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records.

Restrepo NA, Laper S, Farber-Eger E, Crawford DC. Glaucoma is a leading cause of blindness in developed countries. Primary open-angle glaucoma (POAG), the most prevalent clinical subtype of glaucoma in the United States, affects African Americans at a higher rate compared with European Americans. Risk factors identified for POAG include increased age and family history, […]

Integrative analysis of novel hypomethylation and gene expression signatures in glioblastomas.

Yin A, Etcheverry A, He Y, Aubry M, Barnholtz-Sloan J, Zhang L, Mao X, Chen W, Liu B, Zhang W, Mosser J, Zhang X,. Molecular and clinical heterogeneity critically hinders better treatment outcome for glioblastomas (GBMs); integrative analysis of genomic and epigenomic data may provide useful information for improving personalized medicine. By applying training-validation approach, […]

Integrative analysis of novel hypomethylation and gene expression signatures in glioblastomas.

Yin A, Etcheverry A, He Y, Aubry M, Barnholtz-Sloan J, Zhang L, Mao X, Chen W, Liu B, Zhang W, Mosser J, Zhang X,. Molecular and clinical heterogeneity critically hinders better treatment outcome for glioblastomas (GBMs); integrative analysis of genomic and epigenomic data may provide useful information for improving personalized medicine. By applying training-validation approach, […]

A population-specific reference panel empowers genetic studies of Anabaptist populations.

Hou L, Kember RL, Roach JC, O’Connell JR, Craig DW, Bucan M, Scott WK, Pericak-Vance M, Haines JL, Crawford MH, Shuldiner AR, McMahon FJ,. Genotype imputation is a powerful strategy for achieving the large sample sizes required for identification of variants underlying complex phenotypes, but imputation of rare variants remains problematic. Genetically isolated populations offer […]

Germline Genetic Variants and Lung Cancer Survival in African Americans.

Jones CC, Bush WS, Crawford DC, Wenzlaff AS, Schwartz AG, Wiencke JK, Wrensch MR, Blot WJ, Chanock SJ, Grogan EL, Aldrich MC,. Background: African Americans have the highest lung cancer mortality in the United States. Genome-wide association studies (GWASs) of germline variants influencing lung cancer survival have not yet been conducted with African Americans. We […]

Risk Factors for Subsequent Central Nervous System Tumors in Pediatric Allogeneic Hematopoietic Cell Transplant: A Study from the Center for International Blood and Marrow Transplant Research (CIBMTR).

Gabriel M, Shaw BE, Brazauskas R, Chen M, Margolis DA, Sengelov H, Dahlberg A, Ahmed IA, Delgado D, Lazarus HM, Gibson B, Myers KC, Kamble RT, Abdel-Mageed A, Li CK, Flowers MED, Battiwalla M, Savani BN, Majhail N, Shaw PJ,. Survivors of hematopoietic cell transplantation (HCT) are at risk of subsequent solid tumors, including central […]