2013
Congenital heart disease: emerging themes linking genetics and development
Yuan S, Zaidi S, Brueckner M. Congenital heart disease: emerging themes linking genetics and development. Current Opinion In Genetics & Development 2013, 23: 352-359. PMID: 23790954, PMCID: PMC4154700, DOI: 10.1016/j.gde.2013.05.004.Peer-Reviewed Original ResearchConceptsCausative gene discoveryExtreme locus heterogeneityCopy number variationsDistinct genotype-phenotype correlationCiliary signalingModel organismsGene discoveryMost congenital heart diseasesDe novo mutationsGenomic technologiesDevelopmental pathwaysHuman geneticsGenotype-phenotype correlationLines of evidenceGenetic componentLocus heterogeneityMechanistic insightsNovo mutationsCHD pathogenesisGeneticsGenetic abnormalitiesBirth defectsRecent advancesOrganismsSignaling
2011
Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini‐exome data
Bailey‐Wilson J, Brennan JS, Bull SB, Culverhouse R, Kim Y, Jiang Y, Jung J, Li Q, Lamina C, Liu Y, Mägi R, Niu YS, Simpson CL, Wang L, Yilmaz YE, Zhang H, Zhang Z. Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini‐exome data. Genetic Epidemiology 2011, 35: s92-s100. PMID: 22128066, PMCID: PMC3360949, DOI: 10.1002/gepi.20657.Peer-Reviewed Original ResearchConceptsData mining methodsUse of machineMachine learning methodsMining methodsLearning methodsNovel methodGenetic Analysis Workshop 17 mini-exome dataGenetic Analysis Workshop 17Extreme locus heterogeneityDNA sequence dataLocus-specific heritabilityMultiple rare variantsPopulation-specific analysesRare variantsIndividual rare variantsRare genetic variantsRare causal variantsSubset of predictorsLarge numberMultiple variantsComplex traitsMachineSequence dataCausal variantsCausal mutations
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