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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Teder, Hindrek, Paluoja, Priit, Rekker, Kadri, Salumets, Andres, Krjutškov, Kaarel, Palta, Priit
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6613673/
https://ncbi.nlm.nih.gov/pubmed/31283802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0209139
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