Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.

Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with genetic syndromes can also be de...

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Hlavní autoři:	Maria C Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Public Library of Science (PLoS) 2017-01-01
Edice:	PLoS ONE
On-line přístup:	https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0171319&type=printable
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