Join NEB’s Satellite Meeting on:
Advancements in NGS Sample Preparation –
From translational research into clinical applications
New England Biolabs is a global leader in developing solutions for Next Generation Sequencing Sample Preparation and continues to push the forefront in providing high quality, robust products to support the clinical application of genomic data. During this workshop we will elucidate this through practical examples demonstrating how these products are being applied to overcome challenges associated with clinical genomics.
Don’t miss this opportunity and join us for free:
Sunday, June 17th | 15:00 – 16:30 hrs | Room Amber 2
– No registration required
We’ll also take care of your blood sugar as complimentary pastries plus hot & cold beverages will be served.
Looking forward to seeing you!
Enter our on-site raffle & win one of five Solar Power Banks!
From frozen tissue blocks to precise whole genome analysis and phylogenetic tree reconstruction of individual stem cells
Dr. Luiza Moore, Clinical PhD Fellow (Wellcome Trust Sanger Institute/Cambridge Cancer Centre) & honorary Histopathology Registrar (Cambridge University Hospitals)
All somatic cells in the human body undergo mutations, but it is the alterations that are acquired in the genomes of multipotent adult stem cells that have the largest impact on the tissue mutational burden and are associated with cancer development. Single cell DNA sequencing technologies have the potential to shed light on some of these processes, but are still under development and are often associated with incomplete genome coverage, amplification-induced errors and suboptimal variant sensitivity. In the recent years, in-vitro organoid experimental models have been utilised as an alternative to investigate individual genomes of cancer and normal stem cells. However, while these models present an excellent experimental utility, they are limited by the lack of the native microenvironment with associated cell-to-cell interactions, can be challenging to derive in certain tissues (for instance, the ovary), may show potential bias towards certain cell types and additional mutational processes that can be introduced with cell culturing.
To overcome these issues, we have established a laser-capture microscopy (LCM) based method that allows interrogation of adult stem cells genomes across a variety of tissues while preserving the precise phenotypic and spatial information about specific cell populations. Using this approach, we obtained sufficient DNA from small populations of cells for accurate whole-genome sequencing and analysis, while circumventing the artefacts that are typically observed with single-cell whole genome amplification. Sequencing data from these experiments have already provided important insights into clonal expansion and somatic mutations in adult stem cells.
The road to next generation molecular diagnostics
Dr. Kim De Leeneer, Postdoctoral researcher, Center for Medical Genetics, Ghent University Hospital
Next-generation sequencing (NGS) is becoming more prominent in the clinical laboratory. However, whole exome or genome sequencing (WES or WGS) as a first tier test for every patient is often not feasible nor affordable. Although, for heterogeneous diseases like intellectual disability the benefits of WES or WGS are undisputed. For disorders like familial cancers or well defined phenotypes a targeted gene panel approach seems more practical.
We designed a 50 gene panel with the NEBNext Direct technology as a first line screening for familial cancer patients. As the number of patients that require testing is increasing, a straightforward workflow is crucial. We included high and moderate risk genes for breast, colon and pancreatic cancer and completed the design with the coding regions for genes involved in melanoma and Fanconi anemia.
Currently a thorough validation of the design, wet lab work and data analysis is performed, we need an overall sensitivity similar to Sanger sequencing in combination with a positive predictive value of >98%. The distribution of coverage needs to be highly uniform, guaranteeing a minimal number of gaps to be filled and a cost efficient strategy. Although our strategy will be optimized for constitutional variant detection, it will serve as a model for somatic mutation detection in acquired diseases.
An overview of the latest advancements from NEB to enable human genetics
Andrew Barry, Product Marketing Manager, Target Enrichment at New England Biolabs Inc.
The application of advancements made in our understanding of human genetics require robust solutions for deriving genomic insight from human cells. The array of available applications for which human genomic data is applied continues to grow, necessitating novel sample preparation solutions in order to fully elucidate the genetic underpinnings of human disease. Presented here are novel, high-performance, streamlined NEBNext products for next generation sequencing sample preparation that are compatible with picogram to microgram input amounts across a broad range of DNA and RNA quality to produce high-quality sequencing data. During the presentation, we will review the latest products available from New England Biolabs, including options for supporting bioinformatic analysis of NEBNext Direct data.
Your host is Dr. Bjoern Textor, Senior Application Specialist, NEB Germany
Don’t miss this opportunity and join us for free: