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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Vydáno v:PLoS One
Hlavní autoři: Neofytou, Maria C., Tsangaras, Kyriakos, Kypri, Elena, Loizides, Charalambos, Ioannides, Marios, Achilleos, Achilleas, Mina, Petros, Keravnou, Anna, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2017
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5291539/
https://ncbi.nlm.nih.gov/pubmed/28158220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0171319
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