Creating basis for introducing NIPT in the Estonian public health setting
Olga Žilina, Kadri Rekker, Lauris Kaplinski, Martin Sauk, Priit Paluoja, Hindrek Teder, Eva‐Liina Ustav, Neeme Tõnisson, Konstantin Ridnõi, Priit Palta, Kaarel Krjutškov, Ants Kurg, Andres Salumets
The paper validates a whole-genome sequencing-based NIPT method and software for detecting fetal aneuploidies in Estonia, showing high accuracy for common trisomies but some false positives and detection issues with low fetal fraction.
bioRxiv · Oct 3, 2018 · PreprintGenetics