Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
Table 1
The key considerations for each of the compared algorithms.
Table covers minimal coverage where the computational tool could simultaneously detect trisomy cases in chromosomes 13, 18 and 21 with less than 1% undetected and false-positive trisomy calls, minimal fetal fraction from which upwards there are no undetected T13, T18 and T21 calls, and software tool usability.