The detection of small CNAs depends on a count analysis. Chromosomes are cut into bins and reads
are counted. A z-score is computed to compare all chromosome bins representation. During z-score
computation a normalization based on bins' reads GC percentage is performed. Finally, in order
to eliminate the background noise, a deconvolution step is added to improve the detection of
The fetal fraction of plasma sample is of critical value for interpreting NIPT results. According
to the sequencing method, the fetal fraction can be estimated by our solution. Our tool is also
able to use an external fetal fraction estimation based on other experimental methods.