2022
A multipurpose panel of microhaplotypes for use with STR markers in casework
Kidd KK, Pakstis AJ, Gandotra N, Scharfe C, Podini D. A multipurpose panel of microhaplotypes for use with STR markers in casework. Forensic Science International Genetics 2022, 60: 102729. PMID: 35696960, PMCID: PMC11071123, DOI: 10.1016/j.fsigen.2022.102729.Peer-Reviewed Original ResearchAllelesDNA FingerprintingHigh-Throughput Nucleotide SequencingHumansMicrosatellite RepeatsPolymorphism, Single NucleotideSequence Analysis, DNA
2021
The population genetics characteristics of a 90 locus panel of microhaplotypes
Pakstis AJ, Gandotra N, Speed WC, Murtha M, Scharfe C, Kidd KK. The population genetics characteristics of a 90 locus panel of microhaplotypes. Human Genetics 2021, 140: 1753-1773. PMID: 34643790, PMCID: PMC8553733, DOI: 10.1007/s00439-021-02382-0.Peer-Reviewed Original ResearchForensic GeneticsGenetic MarkersGenetics, PopulationHaplotypesHumansPolymorphism, Single NucleotideSequence Analysis, DNA
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 ResearchMeSH KeywordsBase SequenceCost-Benefit AnalysisGene TargetingHeart DiseasesHigh-Throughput Nucleotide SequencingHumansMolecular Sequence DataPolymorphism, Single NucleotideTime FactorsConceptsHeterozygous 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
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
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
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