Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAmino Acid Metabolism, Inborn ErrorsBiomarkersBrain Diseases, MetabolicCaliforniaCongenital Bone Marrow Failure SyndromesEthnicityFalse Positive ReactionsFemaleGestational AgeGlutaryl-CoA DehydrogenaseHumansInfant, NewbornLipid Metabolism, Inborn ErrorsMaleMitochondrial DiseasesMuscular DiseasesNeonatal ScreeningOrnithine Carbamoyltransferase Deficiency DiseaseTandem Mass SpectrometryConceptsMetabolic marker levelsOrnithine transcarbamylase deficiencyMethylmalonic acidemiaClinical variablesMarker levelsBlack infantsMetabolic markersBlood metabolic markersDiverse newborn populationGlutaric acidemia type 1False-positive screensLong-chain acyl-CoA dehydrogenase deficiencyEthnicity-related differencesNewborn screening programsFalse-positive casesInborn metabolic disordersAcyl-CoA dehydrogenase deficiencySingleton babiesGestational ageBirth weightScreening programMetabolic disordersNewborn populationInfluence of ethnicityMetabolic screeningValidation of novel forensic DNA markers using multiplex microhaplotype sequencing
Gandotra N, Speed WC, Qin W, Tang Y, Pakstis AJ, Kidd KK, Scharfe C. Validation of novel forensic DNA markers using multiplex microhaplotype sequencing. Forensic Science International Genetics 2020, 47: 102275. PMID: 32305739, PMCID: PMC10131188, DOI: 10.1016/j.fsigen.2020.102275.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsMH lociMultiplex sequencingNovel single nucleotide polymorphismsSmall DNA amountsSingle MiSeq runMultiple single nucleotide polymorphismsHigher effective numberBiogeographic variationDNA markersGenomic sequencesNovel lociGenome ProjectDNA amountMiSeq runDifferent world populationsNucleotide polymorphismsLociSequencingMicrohaplotypesEffective numberDiverse range