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Article

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

Scientific reports - 4 Apr 2018

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

Abstract excerpt

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 package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool -...

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Identifiers

PMID: 29618827
DOI: 10.1038/s41598-018-23589-8
PMCID: PMC5884839

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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