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Computational framework for targeted high-coverage sequencing based NIPT

Non-invasive prenatal testing (NIPT) enables accurate detection of fetal chromosomal trisomies. The majority of publicly available computational methods for sequencing-based NIPT analyses rely on low-coverage whole-genome sequencing (WGS) data and are not applicable for targeted high-coverage sequen...

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Detalles Bibliográficos
Autores principales:	Teder, Hindrek, Paluoja, Priit, Rekker, Kadri, Salumets, Andres, Krjutškov, Kaarel, Palta, Priit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613673/ https://www.ncbi.nlm.nih.gov/pubmed/31283802 http://dx.doi.org/10.1371/journal.pone.0209139

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