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
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
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