VeriSeq NIPT Assay Software v2 – RUO
The VeriSeq NIPT Assay Software v2 – RUO generates statistics to evaluate the chromosome copy number of the tested samples and provides a determination of aneuploidy on the chromosomes selected for analysis. The selection of chromosomes for analysis depends on the screening type you choose: basic (chromosomes 21, 18, 13, X, and Y) or genomewide (all chromosomes). When you select the genomewide option, the software also tests for the presence of subchromosomal regions of copy number gain or loss within the autosome. A next generation sequencing instrument generates analysis input in the form of 36-base paired-end reads.
The VeriSeq NIPT Assay Software v2 – RUO operates on the VeriSeq NIPT Onsite Server v2 – RUO. The Onsite Server is a central component of the VeriSeq NIPT Solution v2 – RUO and acts as a connection point between the VeriSeq NIPT Workflow Manager, the NextSeq 500/550, and the user.
The VeriSeq NIPT Assay Software aligns the reads against the reference human genome and performs analysis on reads that align to a unique location or site in the genome. The VeriSeq NIPT Assay Software excludes duplicate reads and sites that are associated with high variation in coverage across euploid samples. Sequencing data is normalized for nucleotide content and to correct for batch effects and other sources of unwanted variability. Information about the cfDNA fragment length is derived from the paired-end sequencing reads. The VeriSeq NIPT Assay Software also assesses sequencing coverage statistics on regions known to be enriched for either fetal or maternal cfDNA. Data generated from fragment length and coverage analysis are used to estimate fetal fraction (FF) for each sample.
For each screening option selected for a sample from the assay menu, the VeriSeq NIPT Assay Software reports whether an anomaly was detected. In the basic screen, all anomalies are aneuploidies. For the genomwide screen, an anomaly can be an aneuploidy or a partial deletion or duplication.
