Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
Priit Paluoja, Hindrek Teder, Amin Ardeshirdavani, Baran Bayindir, Joris Robert Vermeesch, Andres Salumets, Kaarel Krjutškov, Priit Palta
This study evaluates five NIPT aneuploidy detection tools using clinically validated samples, finding that lower sequencing coverage increases false-negative and false-positive rates.
PLoS Computational Biology · Dec 20, 2021Peer-reviewedBioinformatics