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Concordance Data: Customer Case Study Shows Performance of NovaSeq X Plus

Psomagen Blog

Concordance Data: Customer Case Study Shows Performance of NovaSeq X Plus


October 17, 2023 — Rockville, MD — Psomagen is delighted to share the results of a recent concordance analysis, analyzing the performance of our new Illumina NovaSeq X Plus instrument in comparison with the NovaSeq 6000. Long-time Psomagen customer Orchid Health assessed the performance of their proprietary whole genome assay on the NovaSeq X Plus when compared to the NovaSeq 6000. Their analysis focused on the accuracy, precision, sensitivity, and specificity of these instruments. 

The same pool of DNA libraries prepared from 5 Genome in a Bottle (GIAB) cell lines were sequenced using whole genome sequencing on the NovaSeq 6000 and NovaSeq X Plus at 30x coverage. Notably, each DNA sample prior to library construction was diluted to a picogram followed by a whole genome amplification to mimic the amount of DNA extracted during PGT.


According to Dhruva Chandramohan, Orchid Health Lead Bioinformatics Scientist, “After running both GIAB datasets through our current pipeline and applying our standard variant filters...we observed that the Nova[Seq] X [Plus] achieved on average higher accuracy, specificity, sensitivity, and comparable precision to the Nova 6000.”

For more detailed results and additional comments from our customers at Orchid Health, we invite you to read the full white paper here →

About Psomagen, Inc.
Psomagen, Inc., formerly Macrogen Corp, is a North American integrative multi-omics solutions and contract laboratory services provider. The company makes cutting-edge technology and data analysis accessible to the clinical and academic markets. With both CLIA-certified and CAP-accredited facilities, their team delivers only the highest-quality integrative multi-omics data using best-in-class DNA, RNA, and protein analysis systems. In conjunction with its bioinformatics capabilities, Psomagen offers a path to insights that is both simple and affordable. Learn more at psomagen.com.

Abhilasha Cheruku
Product Manager
Psomagen, Inc.