Clinical Research with MALDI-TOF Mass Spectrometry for Robust and Highly Sensitive Nucleic Acid Detection and QuantificationWednesday, 30 September 2015 at 15:30 Add to Calendar ▼2015-09-30 15:30:002015-09-30 16:30:00Europe/LondonClinical Research with MALDI-TOF Mass Spectrometry for Robust and Highly Sensitive Nucleic Acid Detection and QuantificationNGS, SCA, Mass Spec: The Road to Diagnostics in San Diego, California, USASan Diego, California, USASELECTBIOenquiries@selectbiosciences.com There has been a large increase in demand for high-throughput DNA analysis in the last decade as the linkages between genomic variations disease and disease predisposition have been established. Today, the majority of discovery research including genome wide association studies (GWAS) are performed using DNA microarrays and next generation sequencing (NGS). NGS is excellent for scanning entire genomes, large genomic regions, or when the analytes of interest exist in a relatively narrow concentration range. Once disease linkages have been established, robust and high throughput MALDI-TOF mass spectrometry (MS) can be used when approximately 100 - 200 loci need to be examined with high precision or when the amount of sample is limiting. This strategy can be used to rapidly validate discoveries, and be implemented to analyze genetic aberrations ranging from single nucleotides to insertions and deletions in thousands of clinical research samples cost effectively. An exciting new area for MALDI-TOF MS is its use for non-invasive detection of circulating cell free tumor DNA or the detection of low frequency mutations from partially degraded DNA derived from formalin fixed paraffin embedded tissues. Examples will be shown for a number of clinical approaches including large-scale SNP genotyping for pharmacogenetic analysis, detection of gene fusions as a substitute technology for in-situ hybridization (FISH), and epigenetic variations. Finally a novel approach for non-invasive, ultrasensitive detection of somatic oncogene mutations in plasma will be presented. |