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, […]
SACNAS, Los Angeles, CA. 2014 2014 Distinguished Research Mentor Award Dana C. Crawford, PhD Case Western Reserve University
SACNAS, Washington, DC, 2015 Genomic discovery, collaboration, and translation using electronic health records Narrative: Precision medicine is often described as prescribing the right drug at the right dose the first time to each patient. While the need for precision medicine is often acknowledged, the data and pathway to its implementation have been lacking. Earlier this […]
Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes in unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess the clinical relevance of rare variants.To determine the clinical phenotypes from EMRs for individuals with […]
Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, Kullo IJ, Abul-Husn NS, Scott SA, Bottinger E, Almoguera B, Connolly J, Chiavacci R, Hakonarson H, Rasmussen-Torvik LJ, Pan V, Persell SD, Smith M, […]
Sharing genomic data is crucial to support scientific investigation such as genome-wide association studies. However, recent investigations suggest the privacy of the individual participants in these studies can be compromised, leading to serious concerns and consequences, such as overly restricted access to data.We introduce a novel cryptographic strategy to securely perform meta-analysis for genetic association […]
Xie W, Kantarcioglu M, Bush WS, Crawford D, Denny JC, Heatherly R, Malin BA,. Sharing genomic data is crucial to support scientific investigation such as genome-wide association studies. However, recent investigations suggest the privacy of the individual participants in these studies can be compromised, leading to serious concerns and consequences, such as overly restricted access […]
Multiple primary cancers account for approximately 16% of all incident cancers in the United States. Although genome-wide association studies (GWAS) have identified many common genetic variants associated with various cancer sites, no study has examined the association of these genetic variants with risk of multiple primary cancers (MPC).As part of the National Human Genome Research […]
Park SL, Caberto CP, Lin Y, Goodloe RJ, Dumitrescu L, Love SA, Matise TC, Hindorff LA, Fowke JH, Schumacher FR, Beebe-Dimmer J, Chen C, Hou L, Thomas F, Deelman E, Han Y, Peters U, North KE, Heiss G, Crawford DC, Haiman CA, Wilkens LR, Bush WS, Kooperberg C, Cheng I, Le Marchand L,. Multiple primary […]
Efficient storage and retrieval of genomic annotations based on range intervals is necessary, given the amount of data produced by next-generation sequencing studies. The indexing strategies of relational database systems (such as MySQL) greatly inhibit their use in genomic annotation tasks. This has led to the development of stand-alone applications that are dependent on flat-file […]
Wiley LK, Sivley RM, Bush WS,. Efficient storage and retrieval of genomic annotations based on range intervals is necessary, given the amount of data produced by next-generation sequencing studies. The indexing strategies of relational database systems (such as MySQL) greatly inhibit their use in genomic annotation tasks. This has led to the development of stand-alone […]
Understanding how genetic variants impact the regulation and expression of genes is important for forging mechanistic links between variants and phenotypes in personal genomics studies. In this work, we investigate statistical interactions among variants that alter gene expression and identify 79 genes showing highly significant interaction effects consistent with genetic heterogeneity. Of the 79 genes, […]