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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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001-es BibID:	BIBFORM074281
Első szerző:	Grendar, Marian
Cím:	Decreasing the no call rate of Non-Invasive Prenatal Testing / Marian Grendar, Dusan Loderer, Iveta Svecova, Zuzana Laucekova, Michaela Hrtankova, Andrea Hornakova, Balint Nagy, Zora Lasabova, Jan Danko
Dátum:	2018
Megjegyzések:	The no call (or failure) rate is an important characteristics of any diagnostic, testing, or screening method. Failures of the read counting approach to Non-Invasive Prenatal Testing (NIPT) are primarily caused by the low fetal fraction. If fetal fraction is below a value, known as the Limit of Detection (LoD), then NIPT cannot determine the aneuploidy status of a fetus. The LoD can be estimated experimentally or by the coverage method. The coverage method implies that the LoD, and hence also the no call rate due to the low fetal fraction, can be made arbitrarily small by increasing the sequencing depth. The no call rate can be made arbitrarily small also by excluding from NIPT the pregnancies suspect of having fetal fraction below the LoD (e.g., due to the low gestational age, high maternal BMI, etc.). These methods of decreasing the no call rate have obvious drawbacks.Explorations of the quantitative foundations of NIPT lead a variant of NIPT that for a fixed sequencing depth attains the no call rate lower than the conventional NIPT and is particularly useful for the subpopulation of pregnancies with the high maternal BMI, and/or low gestational week.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt Non-Invasive Prenatal Testing quantitative foundations
Megjelenés:	Biomedical Papers. - 162 : Suppl. 1 (2018), p. S3. -
További szerzők:	Loderer, Dusan Svecova, Iveta Laucekova, Zuzana Hrtankova, Michaela Hornakova, Andrea Nagy Bálint (1956-) (molekuláris genetikus) Lasabova, Zora Danko, Jan
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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