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 Research
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 Research
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
2012
SRMA: an R package for resequencing array data analysis
Zhang N, Xu Y, O'Hely M, Speed TP, Scharfe C, Wang W. SRMA: an R package for resequencing array data analysis. Bioinformatics 2012, 28: 1928-1930. PMID: 22581181, PMCID: PMC3389772, DOI: 10.1093/bioinformatics/bts286.Peer-Reviewed Original ResearchAlgorithmsComputational BiologyHumansOligonucleotide Array Sequence AnalysisSequence Analysis, DNASoftware
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 variantsSemi‐Automated Library Preparation for High‐Throughput DNA Sequencing Platforms
Farias-Hesson E, Erikson J, Atkins A, Shen P, Davis RW, Scharfe C, Pourmand N. Semi‐Automated Library Preparation for High‐Throughput DNA Sequencing Platforms. BioMed Research International 2010, 2010: 617469. PMID: 20625503, PMCID: PMC2896710, DOI: 10.1155/2010/617469.Peer-Reviewed Original ResearchMeSH KeywordsAutomationDNAExonsGene LibraryGenetic MarkersHigh-Throughput Screening AssaysHumansSequence Analysis, DNA
1998
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein
Strom T, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K, Meitinger T. Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein. Human Molecular Genetics 1998, 7: 2021-2028. PMID: 9817917, DOI: 10.1093/hmg/7.13.2021.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceAnimalsChildChromosomes, Human, Pair 4DNAExonsFamily HealthFemaleGenesGenetic MarkersHumansIntronsMaleMembrane ProteinsMiceMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, Single-Stranded ConformationalSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidWolfram SyndromeConceptsOptic atrophyWolfram syndrome patientsJuvenile diabetes mellitusWolfram syndrome familiesAutosomal recessive disorderMitochondrial DNA deletionsDiabetes mellitusPeripheral neuropathyNeurological symptomsDiabetes insipidusPsychiatric illnessSyndrome patientsWolfram syndromeHeterozygous carriersRecessive disorderSyndrome familiesAffected individualsMellitusPatientsAtrophyInsipidusFunction mutationsDeafnessDNA deletionsTransmembrane protein
1997
Report of the second international workshop on human chromosome 10 mapping 1997.
Meitinger T, Scharfe C, Call K, Moschonas N. Report of the second international workshop on human chromosome 10 mapping 1997. Cytogenetic And Genome Research 1997, 78: 184-94. PMID: 9465886.Peer-Reviewed Original Research