Figure 5
From: NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
Data flow during aneuploidy calling step. Raw counts of each chromosome are divided by the length of k-mer list of respective chromosome to obtain the coverage. The coverage is separated between sample group and reference group. Only reference group is used to generate the linear regression model and later to calculate the average and standard deviation between the observed and predicted coverages. Z-score is used to call the aneuploidy. Cut-off is customizable depending on the type 1 and type 2 error tolerated in the study. Mahalanobis distance is used as a quality control parameter.
