June 1 - 4 | Germany, Berlin | Booth #648

Keynote Speaker - Markus Billeter, AVP, Agilent Technologies, USA 

The scope of laboratory workflows is expanding to encompass further insights, including methylation studies. With ongoing cost pressures, selecting the appropriate set of tools has never been more critical.
The choice depends on the type of sample, like tissue or liquid biopsies in oncology, and the specific objectives of the testing. This talk will shed some light and an update into the ever-growing genomics ecosystem.

Guest Speaker - Dr. rer. nat. Denny Schanze, Institut für Humangenetik, Germany 

Beside WES and WGS analyses the need for special toolsets for mosaic detection and liquid biopsy is of high interest in special areas of research and clinical routine. The knowledge about mosaic disease is rapidly increasing. Over the last four years, we established toolsets for mosaic detection and liquid biopsy by evaluation and validation of different molecular barcoding technologies and library preparation methods including the Magnis NGS Prep System. We will provide details regarding the various steps in the validation process to select the optimum assay design for the highest sensitivity and precision at the desired limit of detection while keeping the assay cost-efficient for routine diagnostics.

Guest Speaker - Cristina Cano Moratilla, Msc., Facultativo Departamento de Biología Molecular Eurofins Megalab, Spain

With the advent of genome sequencing, the detection of variants such as CNVs, repeat disorders, inversions, and deep intronic variants that required various laboratory techniques, has been improved.
However, not all laboratories can sequence a human genome.  Designing a whole exome panel plus clinically relevant genome content, it makes possible to improve the genome-wide mutation rate with the advantages of and ease of use of exome workflow.
In this work, we share our results of how the New Agilent Clinical Research Exome V4 (CREv4) leverages valuable insights and discoveries from whole-genome sequencing (WGS) using a new exome approach that bridges the gap between whole-exome sequencing (WES) and WGS, with unique features such as curated deep intronic sites, mini-genomes and Repeat disorders among others. CREv4 laboratory workflow is fully compatible with the Agilent Magnis NGS prep system for complete walkaway automation and a benchtop sequencer, consistently reducing turnaround time (TAT), compared to other platforms.