2016
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis
Lefterova MI, Shen P, Odegaard JI, Fung E, Chiang T, Peng G, Davis RW, Wang W, Kharrazi M, Schrijver I, Scharfe C. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. Journal Of Molecular Diagnostics 2016, 18: 267-282. PMID: 26847993, PMCID: PMC4816703, DOI: 10.1016/j.jmoldx.2015.11.005.Peer-Reviewed Original ResearchMeSH KeywordsCosts and Cost AnalysisCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDNA Copy Number VariationsDNA PrimersDried Blood Spot TestingGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMultiplex Polymerase Chain ReactionNeonatal ScreeningQuality ControlReproducibility of ResultsSensitivity and SpecificityConceptsMultiplex next-generation sequencingCost-effective assayHigh-throughput screeningLengthy turnaround timeNewborn Dried Blood SpotsAmplification methodUnique designSample processingGenomic DNAMolecular assaysHigh costTurnaround timeGenetic diseasesBlood spotsCFTR analysisComplete concordanceDried Blood SpotsSingle runAssaysScreen-positive newbornsCostDetection
2010
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Research 2010, 39: 44-58. PMID: 20843780, PMCID: PMC3017602, DOI: 10.1093/nar/gkq750.Peer-Reviewed Original ResearchConceptsDNA variantsFunctional DNA variantsMitochondrial DNA maintenanceRare DNA variantsSecond-generation sequencing technologiesNovel rare variantsSanger capillary sequencingSynergistic genetic effectsNuclear candidate genesDNA maintenanceRare variantsGenomic variationSequencing technologiesRare heterozygous variantsCandidate genesGenetic effectsFalse discovery rateMitochondrial disordersCapillary sequencingSequence verificationGenesNovel statistical methodSequencingDiscovery rateHeterozygous variants