2011
High-quality DNA sequence capture of 524 disease candidate genes
Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed TP, Mindrinos MN, Scharfe C. High-quality DNA sequence capture of 524 disease candidate genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 6549-6554. PMID: 21467225, PMCID: PMC3080966, DOI: 10.1073/pnas.1018981108.Peer-Reviewed Original ResearchConceptsGenome informationCandidate genomic regionsCopy number differencesHigh GC contentPadlock probesMolecular diagnosticsSingle nucleotide changeExon-level resolutionDisease candidate genesMitochondrial genesGenomic regionsSequence captureOrnithine transcarbamylase deficiencyGC contentOTC geneCandidate genesDNA variantsExon captureGenomic DNANucleotide changesSample processingStructural variantsGenesSequence verificationDNA samples
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