BioinformaticsPLoS Computational BiologyPeer-reviewed
Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
Priit Paluoja, Hindrek Teder, Amin Ardeshirdavani…·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.
19 citations