Answers are closer than you think - ESHG 2019

Discover what’s new in human genetics research technologies

At ESHG 2019 in Gothenburg, we learned how to deploy the latest technologies to accelerate research in human genetics research and reproductive health workflows.

  • How the latest in qPCR technology, the Applied Biosystems QuantStudio 6 and 7 Pro Real-Time PCR Systems, bring a whole new suite of smart capabilities into your gene expression and SNP genotyping workflow
  • How to gain insights from RNA
  • DNA variant discovery and interpretation
  • Deciphering complex traits with pan-genome genotyping
  • Reproductive health solutions from carrier screening, prenatal to postnatal genetic analysis
  • Sample preparation and sequencing library solutions for optimal data generation

Our corporate satellites invited leading laboratories to share their insights into how they are applying these technologies across human genetics applications.

Satellite I: Genomics into the clinic

Across complex diseases and genetic disorders, our lunchtime seminar showcased innovative science and offered a view on how labs will evolve.

Genomics lab of the future: productivity from digital science
Will Geist, VP and General Manager, Thermo Fisher Scientific
  • Learn how digital science is transforming genetic science and genomics and be introduced to the world’s first smart qPCR instruments, the new QuantStudio 6 and 7 Pro Real-Time PCR Systems (come to our booth #538 to have an even closer look)
FinnGen: a platform for drug target development and precision medicine
Samuli Ripatti, Professor of Biometry, Dept of Public Health and Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki; Broad Institute of MIT and Harvard, US
  • Integrating the 500,000 sample FinnGen study and an innovative genotyping strategy to identify potential drug targets and develop polygenic risk scores for complex disease prediction
From CMAP to NMAP: an integrated microarray approach to repositioning drugs for neurodegenerative disorders
David Chambers PhD, Principal Investigator, Lecturer in Functional Genomics & Drug Discovery, Genomics Drug Discovery Unit, Wolfson Centre for Age-Related Diseases (CARD), King's College London, UK
  • An application of microarrays and their value in drug discovery in Alzheimer’s disease
Variant analysis with high-resolution exon-level copy number microarrays in Uppsala, Sweden
Ann-Charlotte Thuresson, Associate Professor, Clinical Laboratory Geneticist, Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
  • Detecting single-exon deletions and duplications in clinical research applications with the Applied Biosystems CytoScan XON Suite
Can we enhance the applications of newborn screening with genetic testing in the clinic?
Rebecca Thomas PhD, Elizabeth Sollers PhD, Sheffield Children's NHS Foundation Trust, UK

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Satellite II: Sample preparation for cell-free DNA and circulating tumour cells

The corporate satellite considered solutions to the different challenges in sample preparation, with a focus on new applications such as the purification of cell-free DNA and the isolation of circulating tumor cells (CTS). Presenters from academic and Biotech companies highlighted how efficiency and reproducibility can be increased by applying automated purification systems even when working with challenging samples.

Magnetic-based enrichment of circulating tumour cells using the KingFisher system: new opportunities for liquid biopsies
Rui P. L. Neves, Dr. rer. Nat., University Hospital and Medical Faculty of the Heinrich-Heine University Düsseldorf
  • Circulating tumour cells (CTCs) are valuable prognostic biomarkers in different tumours. Obtained by minimally invasive venepuncture, CTCs hold great potential for real-time assessment of disease progression and monitoring of therapeutic response. However, CTCs are present in blood at extremely low frequencies making their identification very challenging. In this presentation we will hear how the KingFisher system can be used to enrich and identify CTCs
Towards integrating of targeted next generation sequencing in the clinic
Jacqui Shaw, Prof. Dr., University of Leicester
  • Cell-free DNA or circulating DNA are degraded DNA fragments that are found in the bloodstream and can be captured as a biological sample such as whole blood or serum. See how this lab uses automated sample preparation to support a range of genetic analysis approaches using cfDNA samples.
Using KingFisher systems to increase reproducibility in new applications using challenging samples
Hannah E. Saunders, MSPH, Scientist at Thermo Fisher Scientific, Austin
  • Using reliable magnetic particle separation technology, Thermo Scientific KingFisher systems and Applied Biosystems MagMAX reagents provide excellent reproducibility and high quality eluates. The KingFisher platforms enable efficient sample preparation from a wide variety of starting materials and offer the opportunity to select an appropriate throughput option for any laboratory. KingFisher systems and MagMAX chemistries pair to provide highly versatile, automated magnetic-particle processing for DNA/RNA, protein or cell purification from virtually any source and suitable for desired downstream applications

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