2018
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
Sun Y, Damrauer S, Hui Q, Assimes T, Ho Y, Natarajan P, Klarin D, Huang J, Lynch J, DuVall S, Pyarajan S, Honerlaw J, Gaziano J, Cho K, Rader D, O’Donnell C, Tsao P, Wilson P, Ramoni R, Breeling J, Chang K, Huang G, Muralidhar S, Muralidhar S, Moser J, Whitbourne S, Brewer J, Concato J, Warren S, Argyres D, Stephens B, Brophy M, Humphries D, Do N, Shayan S, Nguyen X, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Harley J, Whittle J, Beckham J, Wells J, Gutierrez S, Gibson G, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Haddock K, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Buford M, Mastorides S, Klein J, Ratcliffe N, Florez H, Swann A, Murdoch M, Sriram P, Yeh S, Washburn R, Jhala D, Aguayo S, Cohen D, Sharma S, Callaghan J, Oursler K, Whooley M, Ahuja S, Gutierrez A, Schifman R, Greco J, Rauchman M, Servatius R, Oehlert M, Wallbom A, Fernando R, Morgan T, Stapley T, Sherman S, Anderson G, Tsao P, Sonel E, Boyko E, Meyer L, Gupta S, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program. Circulation Genomic And Precision Medicine 2018, 11 PMID: 31106297, PMCID: PMC6516478, DOI: 10.1161/circgen.118.002192.Peer-Reviewed Original ResearchConceptsCoronary heart diseasePathogenic FH variantsFamilial hypercholesterolemiaFH variantsClinical outcomesHigh prevalenceLow-density lipoprotein cholesterolPremature coronary heart diseasePeripheral artery diseaseLDL-C levelsLow-density lipoproteinMulti-ethnic populationCardiovascular outcomesArtery diseaseLipoprotein cholesterolCholesterol levelsHeart diseaseMillion Veteran ProgramRisk individualsPhenome-wide scanGenetic Variants AssociatedClinical diagnosisClinical encountersHypercholesterolemiaMulti-ethnic participants
2017
Leveraging functional annotations in genetic risk prediction for human complex diseases
Hu Y, Lu Q, Powles R, Yao X, Yang C, Fang F, Xu X, Zhao H. Leveraging functional annotations in genetic risk prediction for human complex diseases. PLOS Computational Biology 2017, 13: e1005589. PMID: 28594818, PMCID: PMC5481142, DOI: 10.1371/journal.pcbi.1005589.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingData Interpretation, StatisticalData MiningDatabases, GeneticEpigenomicsGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansLinkage DisequilibriumPolymorphism, Single NucleotideProportional Hazards ModelsQuantitative Trait LociRisk AssessmentConceptsGenome-wide association studiesFunctional annotationGenetic risk predictionDisease-associated genetic variantsLinkage disequilibriumIdentification of thousandsWide association studyHuman complex diseasesComplex diseasesGWAS summary statisticsHuman genetics researchAssociation studiesAnnoPredGenotype dataGenetic researchGenetic variantsRelevant variantsAnnotationDisequilibriumMost diseasesDiverse typesSummary statisticsVariantsBayesian frameworkPrecision medicine