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001-es BibID:	BIBFORM078545
Első szerző:	Grendar, Marian
Cím:	Non-invasive prenatal screening : from counting chromosomes to estimation of the degree of mosaicism / Marian Grendar, Dusan Loderer, Iveta Svecova, Zuzana Laucekova, Michaela Hrtankova, Balint Nagy, Pavol Zubor, Zora Lasabova, Jan Danko
Dátum:	2019
Megjegyzések:	The read-counting approach to Non-Invasive Prenatal Screening(NIPS) for the common aneuploidies in the placenta rests on a corre-spondence between the number of copies of a chromosome (one, two,or three) and the number of sequencing reads aligned to the chromosome.The discreet, trichotomous NIPS implicitly assumes that a placenta is ei-ther monosomic, euploid or trisomic. If the placenta is affected by somedegree of mosaicism then the discreet NIPS forces it into one of the threecategories, and, in this sense, the placenta is misdiagnosed.The degree of mosaicism can be any number between 0 and 1 (or 0and 100 percent). Thus, a trisomy can be seen as the 100% mosaicism,euploidy as the 0% mosaicism, and the -100% mosaicism corresponds tomonosomy. This way, NIPS turns from counting the copies of a chromo-some (discrete NIPS) to estimation of the degree of mosaicism (continu-ous NIPS). The objective of the continuous NIPS is to measure the degreeof the placental mosaicism as accurately and as precisely as possible.In this work, quantitative foundations of the continuous NIPS are laiddown and explored. The mosaicism interval and the interval-based esti-mate of the degree of mosaicism are introduced. The uncertainty of theestimation of the degree of mosaicism can be quantified by the width ofthe mosaicism interval. Quality control criterion for the continuous NIPSis specified. Importance of using the well-calibrated NIPS is stressed.A small-scale study of a well-calibrated continuous NIPS pipeline im-plies that at the 5% fetal fraction a sample with the 70% trisomic mo-saicism on chromosome 21 can be indistinguishablefrom an euploid sam-ple. In order to attain an acceptable precision of the continuous NIPS,sequencing depth higher than that of the current use in the discreet NIPSwould be needed.
ISBN:	978-1-53615-335-4
Tárgyszavak:	Orvostudományok Klinikai orvostudományok könyvfejezet non-invasive prenatal mosaicism chromosomes
Megjelenés:	Advances in Medicine and Biology / Ed. Leon V. Berhardt. - p. 85-126. -
További szerzők:	Loderer, Dusan Svecova, Iveta Laucekova, Zuzana Hrtankova, Michaela Nagy Bálint (1956-) (molekuláris genetikus) Zubor, Pavol Lasabova, Zora Danko, Jan
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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