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 ResearchMeSH KeywordsDNA Mutational AnalysisExonsFemaleGenetic Diseases, InbornGenome-Wide Association StudyHumansMaleMitochondrial ProteinsPolymorphism, Single NucleotideConceptsGenome 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
1999
MITOP: database for mitochondria-related proteins, genes and diseases
Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz K, Mewes HW, Meitinger T. MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Research 1999, 27: 153-155. PMID: 9847163, PMCID: PMC148118, DOI: 10.1093/nar/27.1.153.Peer-Reviewed Original ResearchConceptsGene catalogProtein entriesMitochondrial-encoded genesMitochondria-related proteinsCaenorhabditis elegansProtein catalogueEST hitsMitochondrial processesNeurospora crassaFASTA searchInterspecies homologyMus musculusReference sequenceHomologyGenesProteinFacilitate investigationProtein abnormalitiesSequenceElegansCrassaCerevisiaeMusculusSpeciesPathway