2013
Rare variant detection using family-based sequencing analysis
Peng G, Fan Y, Palculict TB, Shen P, Ruteshouser EC, Chi AK, Davis RW, Huff V, Scharfe C, Wang W. Rare variant detection using family-based sequencing analysis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 3985-3990. PMID: 23426633, PMCID: PMC3593912, DOI: 10.1073/pnas.1222158110.Peer-Reviewed Original Research
2009
Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes
Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLOS Computational Biology 2009, 5: e1000374. PMID: 19390613, PMCID: PMC2668170, DOI: 10.1371/journal.pcbi.1000374.Peer-Reviewed Original ResearchConceptsMitochondrial disease genesDisease genesMitochondrial genesMost mitochondrial proteinsMitochondrial disease phenotypesGene network analysisDisease phenotypePhenotypic featuresGenotype-phenotype relationsNuclear genesHuman mitochondriaMitochondrial proteinsCharacteristic interaction patternsPhenotypic dataCandidate genesMitochondrial systemDifferent genesSimilar phenotypeGene associationsGenesFunctional interactionMitochondrial disordersClinical disease phenotypeSimilarity valuesPhenotype
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