NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

Abstract Background Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed. Prediction accuracy is dependent on the characteristics of this group and can...

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Main Authors: Lennart F. Johansson, Hendrik A. de Weerd, Eddy N. de Boer, Freerk van Dijk, Gerard J. te Meerman, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Morris A. Swertz
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-12-01
Colecção:BMC Bioinformatics
Assuntos:
NIPT
Trisomy prediction
Next-generation sequencing
Acesso em linha:http://link.springer.com/article/10.1186/s12859-018-2557-8
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