Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.

Dumitrescu L, Restrepo NA, Goodloe R, Boston J, Farber-Eger E, Pendergrass SA, Bush WS, Crawford DC,. Racial/ethnic differences for commonly measured clinical variables are well documented, and it has been postulated that population-specific genetic factors may play a role. The genetic heterogeneity of admixed populations, such as African Americans, provides a unique opportunity to identify […]

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.

Chapman KA, Bush WS, Zhang Z,. Propionic acidemia (PA) is an inborn of metabolism which usually presents with metabolic acidosis and accumulation of 3-hydroxypropionate among other toxins. Examining the gene expression in lymphoblastoid cell lines (LCLs) from PA patients, their carrier parents and age/sex-matched controls at normal glucose and low glucose growth conditions demonstrated differences […]

Sex-Specific Parental Effects on Offspring Lipid Levels.

Predazzi IM, Sobota RS, Sanna S, Bush WS, Bartlett J, Lilley JS, Linton MF, Schlessinger D, Cucca F, Fazio S, Williams SM,. Plasma lipid levels are highly heritable traits, but known genetic loci can only explain a small portion of their heritability.In this study, we analyzed the role of parental levels of total cholesterol (TC), […]

Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.

, Brat DJ, Verhaak RG, Aldape KD, Yung WK, Salama SR, Cooper LA, Rheinbay E, Miller CR, Vitucci M, Morozova O, Robertson AG, Noushmehr H, Laird PW, Cherniack AD, Akbani R, Huse JT, Ciriello G, Poisson LM, Barnholtz-Sloan JS, Berger MS, Brennan C, Colen RR, Colman H, Flanders AE, Giannini C, Grifford M, Iavarone A, […]

Genetic and clinical risk prediction model for postoperative atrial fibrillation.

Kolek MJ, Muehlschlegel JD, Bush WS, Parvez B, Murray KT, Stein CM, Shoemaker MB, Blair MA, Kor KC, Roden DM, Donahue BS, Fox AA, Shernan SK, Collard CD, Body SC, Darbar D,. Postoperative atrial fibrillation (PoAF) is common after coronary artery bypass grafting. We previously showed that atrial fibrillation susceptibility single nucleotide polymorphisms (SNPs) at […]

Alex’s Lemonade Stand Foundation Infant and Childhood Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2007-2011.

Ostrom QT, de Blank PM, Kruchko C, Petersen CM, Liao P, Finlay JL, Stearns DS, Wolff JE, Wolinsky Y, Letterio JJ, Barnholtz-Sloan JS,. The CBTRUS Statistical Report: Alex’s Lemonade Stand Foundation Infant and Childhood Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2007–2011 comprehensively describes the current population-based incidence of […]

Knowledge-constrained K-medoids Clustering of Regulatory Rare Alleles for Burden Tests.

Sivley RM, Fish AE, Bush WS,. Rarely occurring genetic variants are hypothesized to influence human diseases, but statistically associating these rare variants to disease is challenging due to a lack of statistical power in most feasibly sized datasets. Several statistical tests have been developed to either collapse multiple rare variants from a genomic region into […]

SecureMA: protecting participant privacy in genetic association meta-analysis.

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 […]