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001-es BibID:	BIBFORM078546
035-os BibID:	(WoS)000468162100005 (Scopus)85064934684
Első szerző:	Grendar, Marian
Cím:	Uncertainty of fetal fraction determination in Non-Invasive Prenatal Screening by highly polymorphic SNPs / Marian Grendár, Dušan Loderer, Zuzana Laučeková, Iveta Švecová, Michaela Hrtánková, Andrea Hornáková, Bálint Nagy, Pavol Žúbor, Zora Lasabová, Ján Danko
Dátum:	2019
ISSN:	0168-1656
Megjegyzések:	Fetal fraction and the chromosome representation are the two key quantities used in Non-Invasive Prenatal Screening (NIPS) to determine the aneuploidy status of a fetus. Several methods for fetal fraction determination have been proposed in the literature, including a class of the methods, denoted snpFF, based on high-coverage targeted sequencing of highly polymorphic Single Nucleotide Polymorphisms (SNPs). The variant of snpFF, investigated here, has similar properties as the other variants of snpFF. We point out that the variability of the individual informative SNPs-based estimates of fetal fraction increases with the increase of fetal fraction. At 4% fetal fraction the Inter-Quartile Range (IQR) of the individual estimates of fetal fraction is around 3% and it increases to 6% at 15% fetal fraction. snpFF cannot detect fetal fraction below 2.5% because the number of informative SNPs becomes too small, even zero.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk prenatal screening non-invasive SNP
Megjelenés:	Journal Of Biotechnology. - 299 (2019), p. 32-36. -
További szerzők:	Loderer, Dusan Laucekova, Zuzana Svecova, Iveta Hrtankova, Michaela Hornakova, Andrea Nagy Bálint (1956-) (molekuláris genetikus) Zubor, Pavol Lasabova, Zora Danko, Jan
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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