Downstream of next generation sequencing: high-confidence biomarker validation
Next-generation sequencing (NGS) and genome-wide association studies (GWAS) have revolutionized the genetic landscape, leading to the discovery of genetic markers with potential relevance for personalized medicine and pharmacogenomics. However, all genetic marker candidates – whether they are particular polymorphic loci, gene transcripts, or methylated regions – require further validation in order to advance to the next stage of utility and potentially lead to a molecular diagnostic test. An ideal method should be flexible and scalable in throughput to evaluate a varying number and type of markers. The Sequenom’s MassARRAY Genetic Analysis System, available in 96- and 384- formats, affords this capability.
The Sequenom’s platform offers MALDI-TOF mass spectrometry (MS) for high accuracy and sensitivity, robust chemistry for reproducible results, and advanced data analysis software to meet the needs of any genomic laboratory.
The MassARRAY system, a scalable platform with a suite of applications for quantitative and qualitative nucleic acid analysis, provides flexible assay design, fast time-to-results, and cost effective sample run from tens to thousands of samples daily. These features make it the ideal genetic analysis system for validation and fine mapping studies in basic and translational research settings.
Maura Menghi
Diatech Pharmacogenetics s.r.l.
