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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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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Neofytou, Maria C., Tsangaras, Kyriakos, Kypri, Elena, Loizides, Charalambos, Ioannides, Marios, Achilleos, Achilleas, Mina, Petros, Keravnou, Anna, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Accés en línia: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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