Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
Fig 1
Trisomy detection accuracy of tested NIPT software tools across different sequencing depths.
(A) Percentages and absolute numbers of undetected trisomy cases among known trisomies. (B) False-positive T21 results among known euploid samples. The horizontal dashed line in each graph marks the 1% cut-off level often used in clinical screening.