Matches in SemOpenAlex for { <https://semopenalex.org/work/W1933569737> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W1933569737 endingPage "1022" @default.
- W1933569737 startingPage "1017" @default.
- W1933569737 abstract "Objective Current methods of prenatal diagnosis to detect beta-thalassemia are Sanger sequencing and reverse dot blot. These methods are time-consuming and can prolong assay turnaround time. We aim to develop a sensitive and rapid method to detect 27 beta-thalassemia mutations using pyrosequencing. Method Pyrosequencing primer pairs and sequencing primers were designed to detect 27 most common beta-thalassemia mutations found in Singapore. Pyrosequencing was performed on 191 DNA samples with known beta-thalassemia mutations isolated from 143 peripheral blood and 48 prenatal samples (seven chorionic villus biopsies, 26 cultured amniocytes, 15 uncultured amniocytes). All mutations were validated with Sanger sequencing. Results Pyrosequencing identified 210 alleles with beta-thalassemia mutations and 82 alleles without mutations with 100% sensitivity (lower 95% confidence interval [CI], 97.8%) and 100% specificity (lower 95% CI, 94.4%). All pyrosequences were concordant with Sanger-based sequences. Pyrosequencing was able to detect DNA concentrations as low as 2 ng, obviating the need for cell culture in volume-restricted samples. Sample receipt-to-report assay turnaround times were 16 to 18 h (Sanger sequencing) and 4 to 6 h (pyrosequencing). Conclusion Pyrosequencing is a rapid and sensitive method to detect common beta-thalassemia mutations without the need for cell culture, thus reducing the assay turnaround time. © 2013 John Wiley & Sons, Ltd." @default.
- W1933569737 created "2016-06-24" @default.
- W1933569737 creator A5023187664 @default.
- W1933569737 creator A5024221448 @default.
- W1933569737 creator A5026149431 @default.
- W1933569737 creator A5027676806 @default.
- W1933569737 creator A5033632386 @default.
- W1933569737 creator A5033797180 @default.
- W1933569737 creator A5064179332 @default.
- W1933569737 date "2013-07-21" @default.
- W1933569737 modified "2023-09-26" @default.
- W1933569737 title "Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing" @default.
- W1933569737 cites W1529958615 @default.
- W1933569737 cites W1570499613 @default.
- W1933569737 cites W1971045985 @default.
- W1933569737 cites W1971359652 @default.
- W1933569737 cites W1995581286 @default.
- W1933569737 cites W1996729419 @default.
- W1933569737 cites W2014047578 @default.
- W1933569737 cites W2031147836 @default.
- W1933569737 cites W2034140639 @default.
- W1933569737 cites W2059479645 @default.
- W1933569737 cites W2078757676 @default.
- W1933569737 cites W2082428301 @default.
- W1933569737 cites W2099163399 @default.
- W1933569737 cites W2125642074 @default.
- W1933569737 cites W2145729568 @default.
- W1933569737 cites W2316154497 @default.
- W1933569737 cites W2330458542 @default.
- W1933569737 cites W4211225058 @default.
- W1933569737 doi "https://doi.org/10.1002/pd.4183" @default.
- W1933569737 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23794144" @default.
- W1933569737 hasPublicationYear "2013" @default.
- W1933569737 type Work @default.
- W1933569737 sameAs 1933569737 @default.
- W1933569737 citedByCount "2" @default.
- W1933569737 countsByYear W19335697372022 @default.
- W1933569737 crossrefType "journal-article" @default.
- W1933569737 hasAuthorship W1933569737A5023187664 @default.
- W1933569737 hasAuthorship W1933569737A5024221448 @default.
- W1933569737 hasAuthorship W1933569737A5026149431 @default.
- W1933569737 hasAuthorship W1933569737A5027676806 @default.
- W1933569737 hasAuthorship W1933569737A5033632386 @default.
- W1933569737 hasAuthorship W1933569737A5033797180 @default.
- W1933569737 hasAuthorship W1933569737A5064179332 @default.
- W1933569737 hasConcept C104317684 @default.
- W1933569737 hasConcept C125009961 @default.
- W1933569737 hasConcept C153911025 @default.
- W1933569737 hasConcept C172680121 @default.
- W1933569737 hasConcept C180754005 @default.
- W1933569737 hasConcept C2776555163 @default.
- W1933569737 hasConcept C2777799968 @default.
- W1933569737 hasConcept C2777940137 @default.
- W1933569737 hasConcept C2778258057 @default.
- W1933569737 hasConcept C2779234561 @default.
- W1933569737 hasConcept C501734568 @default.
- W1933569737 hasConcept C54355233 @default.
- W1933569737 hasConcept C76818968 @default.
- W1933569737 hasConcept C86803240 @default.
- W1933569737 hasConceptScore W1933569737C104317684 @default.
- W1933569737 hasConceptScore W1933569737C125009961 @default.
- W1933569737 hasConceptScore W1933569737C153911025 @default.
- W1933569737 hasConceptScore W1933569737C172680121 @default.
- W1933569737 hasConceptScore W1933569737C180754005 @default.
- W1933569737 hasConceptScore W1933569737C2776555163 @default.
- W1933569737 hasConceptScore W1933569737C2777799968 @default.
- W1933569737 hasConceptScore W1933569737C2777940137 @default.
- W1933569737 hasConceptScore W1933569737C2778258057 @default.
- W1933569737 hasConceptScore W1933569737C2779234561 @default.
- W1933569737 hasConceptScore W1933569737C501734568 @default.
- W1933569737 hasConceptScore W1933569737C54355233 @default.
- W1933569737 hasConceptScore W1933569737C76818968 @default.
- W1933569737 hasConceptScore W1933569737C86803240 @default.
- W1933569737 hasIssue "11" @default.
- W1933569737 hasLocation W19335697371 @default.
- W1933569737 hasLocation W19335697372 @default.
- W1933569737 hasOpenAccess W1933569737 @default.
- W1933569737 hasPrimaryLocation W19335697371 @default.
- W1933569737 hasRelatedWork W1933569737 @default.
- W1933569737 hasRelatedWork W1968549610 @default.
- W1933569737 hasRelatedWork W2137737623 @default.
- W1933569737 hasRelatedWork W2170467561 @default.
- W1933569737 hasRelatedWork W2407312881 @default.
- W1933569737 hasRelatedWork W2550147910 @default.
- W1933569737 hasRelatedWork W2767757503 @default.
- W1933569737 hasRelatedWork W2995573872 @default.
- W1933569737 hasRelatedWork W3094470357 @default.
- W1933569737 hasRelatedWork W33840201 @default.
- W1933569737 hasVolume "33" @default.
- W1933569737 isParatext "false" @default.
- W1933569737 isRetracted "false" @default.
- W1933569737 magId "1933569737" @default.
- W1933569737 workType "article" @default.