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 […]
Category Archives: Publications
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia.
Setiawan VW, Schumacher F, Prescott J, Haessler J, Malinowski J, Wentzensen N, Yang H, Chanock S, Brinton L, Hartge P, Lissowska J, Park SL, Cheng I, Bush WS, Crawford DC, Ursin G, Horn-Ross P, Bernstein L, Lu L, Risch H, Yu H, Sakoda LC, Doherty J, Chen C, Jackson R, Yasmeen S, Cote M, Kocarnik […]
Antiepileptic activity of preferential inhibitors of persistent sodium current.
Anderson LL, Thompson CH, Hawkins NA, Nath RD, Petersohn AA, Rajamani S, Bush WS, Frankel WN, Vanoye CG, Kearney JA, George AL,. Evidence from basic neurophysiology and molecular genetics has implicated persistent sodium current conducted by voltage-gated sodium (NaV ) channels as a contributor to the pathogenesis of epilepsy. Many antiepileptic drugs target NaV channels […]
eMERGEing progress in genomics-the first seven years.
Crawford DC, Crosslin DR, Tromp G, Kullo IJ, Kuivaniemi H, Hayes MG, Denny JC, Bush WS, Haines JL, Roden DM, McCarty CA, Jarvik GP, Ritchie MD,. The electronic MEdical Records & GEnomics (eMERGE) network was established in 2007 by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in part […]
Automated quantification of pancreatic β-cell mass.
Golson ML, Bush WS, Brissova M,. β-Cell mass is a parameter commonly measured in studies of islet biology and diabetes. However, the rigorous quantification of pancreatic β-cell mass using conventional histological methods is a time-consuming process. Rapidly evolving virtual slide technology with high-resolution slide scanners and newly developed image analysis tools has the potential to […]
Replication of associations between GWAS SNPs and melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) Study.
Kocarnik JM, Park SL, Han J, Dumitrescu L, Cheng I, Wilkens LR, Schumacher FR, Kolonel L, Carlson CS, Crawford DC, Goodloe RJ, Dilks H, Baker P, Richardson D, Ambite JL, Song F, Quresh AA, Zhang M, Duggan D, Hutter C, Hindorff LA, Bush WS, Kooperberg C, Le Marchand L, Peters U,.
Bioinformatics challenges in genome-wide association studies (GWAS).
De R, Bush WS, Moore JH,. Genome-wide association studies (GWAS) are a powerful tool for investigators to examine the human genome to detect genetic risk factors, reveal the genetic architecture of diseases and open up new opportunities for treatment and prevention. However, despite its successes, GWAS have not been able to identify genetic loci that […]
Investigating the relationship between mitochondrial genetic variation and cardiovascular-related traits to develop a framework for mitochondrial phenome-wide association studies.
Mitchell SL, Hall JB, Goodloe RJ, Boston J, Farber-Eger E, Pendergrass SA, Bush WS, Crawford DC,. Mitochondria play a critical role in the cell and have DNA independent of the nuclear genome. There is much evidence that mitochondrial DNA (mtDNA) variation plays a role in human health and disease, however, this area of investigation has […]
Pleiotropic associations of risk variants identified for other cancers with lung cancer risk: the PAGE and TRICL consortia.
Park SL, Fesinmeyer MD, Timofeeva M, Caberto CP, Kocarnik JM, Han Y, Love SA, Young A, Dumitrescu L, Lin Y, Goodloe R, Wilkens LR, Hindorff L, Fowke JH, Carty C, Buyske S, Schumacher FR, Butler A, Dilks H, Deelman E, Cote ML, Chen W, Pande M, Christiani DC, Field JK, Bickebller H, Risch A, Heinrich […]
Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia.
Cheng I, Kocarnik JM, Dumitrescu L, Lindor NM, Chang-Claude J, Avery CL, Caberto CP, Love SA, Slattery ML, Chan AT, Baron JA, Hindorff LA, Park SL, Schumacher FR, Hoffmeister M, Kraft P, Butler AM, Duggan DJ, Hou L, Carlson CS, Monroe KR, Lin Y, Carty CL, Mann S, Ma J, Giovannucci EL, Fuchs CS, Newcomb […]
Automated extraction of clinical traits of multiple sclerosis in electronic medical records.
Davis MF, Sriram S, Bush WS, Denny JC, Haines JL,. The clinical course of multiple sclerosis (MS) is highly variable, and research data collection is costly and time consuming. We evaluated natural language processing techniques applied to electronic medical records (EMR) to identify MS patients and the key clinical traits of their disease course.We used […]
Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients.
Oetjens M, Bush WS, Birdwell KA, Dilks HH, Bowton EA, Denny JC, Wilke RA, Roden DM, Crawford DC,. Calcineurin-inhibitors CI are immunosuppressive agents prescribed to patients after solid organ transplant to prevent rejection. Although these drugs have been transformative for allograft survival, long-term use is complicated by side effects including nephrotoxicity. Given the narrow therapeutic […]