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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發表在:PLoS One
Main Authors: Neofytou, Maria C., Tsangaras, Kyriakos, Kypri, Elena, Loizides, Charalambos, Ioannides, Marios, Achilleos, Achilleas, Mina, Petros, Keravnou, Anna, Sismani, Carolina, Koumbaris, George, Patsalis, Philippos C.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2017
主題:
Research Article
在線閱讀: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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