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001-es BibID:	BIBFORM079252
035-os BibID:	(WoS)000480384000004 (Scopus)85069723243
Első szerző:	Mezei Zoltán András (orvos)
Cím:	A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation : testing several different ITD sequences and rates, simultaneously / Zoltán A. Mezei, Dávid Tornai, Róza V. Földesi, László Madar, Andrea Sümegi, Mária Papp, Péter Antal-Szalmás
Dátum:	2019
ISSN:	0168-1656
Megjegyzések:	Internal tandem duplication (ITD) in the fms-like tyrosine kinase 3 (FLT3) gene is one of the most frequent genetic alteration in acute myeloid leukemia (AML), and it is associated with worse clinical outcome. Not only the presence but also the size, localization and the rate of this variant or the presence of multiple ITDs has prognostic information. The traditional PCR based diagnostic methods cannot provide information about all of these parameters in one assay, however the application of next generation sequencing (NGS) technique can be a reliable solution for this diagnostic problem. In order to evaluate the analytical properties of an NGS-based FLT3-ITD detection assay a QC sample was prepared from DNA of AML patients containing 19 different FLT3-ITD variants identified by NGS. The higher the total read count was in a certain sample of the NGS run, the more ITD variant types could be detected. The maximal sensitivity of FLT3-ITD detection by NGS technique was as low as 0.007% FLT3-ITD/total allele rate, however, below 0.1% rate, the reproducibility of the quantitation was poor (CV>25%). DNA pools with several FLT3-ITDs can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation testing several different ITD sequences and rates, simultaneously.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Fms-like tyrosine kinase 3 (FLT3) internal tandem duplication (ITD) deep next generation sequencing (NGS) analytical validation
Megjelenés:	Journal Of Biotechnology. - 303 (2019), p. 25-29. -
További szerzők:	Tornai Dávid (1989-) (hepatológia, biomarker kutatás) Földesi Róza (1967-) (klinikai laboratóriumi kutató, PhD hallgató) Madar László (1972-) (klinikai laboratóriumi kutató) Sümegi Andrea (1969-) (biológus) Papp Mária (1975-) (belgyógyász, gasztroenterológus) Antal-Szalmás Péter (1968-) (laboratóriumi szakorvos)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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