2015
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases
Wilson KD, Shen P, Fung E, Karakikes I, Zhang A, InanlooRahatloo K, Odegaard J, Sallam K, Davis RW, Lui GK, Ashley EA, Scharfe C, Wu JC. A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases. Circulation Research 2015, 117: 603-611. PMID: 26265630, PMCID: PMC4568077, DOI: 10.1161/circresaha.115.306723.Peer-Reviewed Original ResearchConceptsHeterozygous single nucleotide polymorphismsCongenital heart disease genesThousands of mutationsHeart disease genesShelf kitsRegulatory sequencesNext-generation sequencingSingle nucleotide polymorphismsCardiac developmentDisease genesGenomic DNATargeted Next-Generation Sequencing AssayCardiac genesGenesSequencing runPowerful new toolHigh-throughput detectionNucleotide polymorphismsSequencing assaysMutationsMiR-499Polymorphic regionDNA mutation detectionGermline variantsNext-generation sequencing assay
2003
Role of duplicate genes in genetic robustness against null mutations
Gu Z, Steinmetz LM, Gu X, Scharfe C, Davis RW, Li WH. Role of duplicate genes in genetic robustness against null mutations. Nature 2003, 421: 63-66. PMID: 12511954, DOI: 10.1038/nature01198.Peer-Reviewed Original ResearchConceptsDuplicate genesGenetic robustnessNull mutationSevere fitness effectsGenome-wide evaluationAlternative metabolic pathwaysFitness effectsLoss of functionSequence similarityRegulatory networksDeletion mutantsS. cerevisiaeGenesMetabolic pathwaysDuplicate copiesGene deletionFunctional compensationFitness dataCopiesMutationsMutantsCerevisiaeRelative importanceOrganismsSecond mechanism