Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

BACKGROUND: Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the deve...

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Publicat a:Mol Cytogenet
Autors principals: Koumbaris, George, Achilleos, Achilleas, Nicolaou, Michalis, Loizides, Charalambos, Tsangaras, Kyriakos, Kypri, Elena, Mina, Petros, Sismani, Carolina, Velissariou, Voula, Christopoulou, Georgia, Constantoulakis, Pantelis, Manolakos, Emmanouil, Papoulidis, Ioannis, Stambouli, Danai, Ioannides, Marios, Patsalis, Philippos
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6873497/
https://ncbi.nlm.nih.gov/pubmed/31832098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0459-8
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