NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software packag...

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Bibliographic Details
Published in:Sci Rep
Main Authors: Sauk, Martin, Žilina, Olga, Kurg, Ants, Ustav, Eva-Liina, Peters, Maire, Paluoja, Priit, Roost, Anne Mari, Teder, Hindrek, Palta, Priit, Brison, Nathalie, Vermeesch, Joris R., Krjutškov, Kaarel, Salumets, Andres, Kaplinski, Lauris
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5884839/
https://ncbi.nlm.nih.gov/pubmed/29618827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-23589-8
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