GenomeWebinars

Join us for an informative webinar and learn how advances in open science coupled with modern approaches to bioinformatics analysis are helping accelerate scientific discovery. Thomas Yu, associate director of data processing and engineering at Sage Bionetworks, a leading non-profit research organization, will discuss their innovative use of open-source tools and pipelines. He will explain how Sage’s focus on well-annotated data and the use of modern tools have enabled them to build a collaborative, accessible environment and generate high-quality data faster and more cost-efficiently for their user communities.

Modern software engineering techniques and tools, such as Nextflow and the Seqera platform, have played an important role in Sage’s success. Evan Floden, co-founder and CEO of Seqera, will discuss key functionality enabling these innovations, including secure credential managed and enhanced APIs enabling end-to-end process automation.

Join these industry leaders as they explore the latest advances in genomics analysis techniques and learn about topics that include:

• Leveraging community Nf-core pipelines, modules, and tools to reduce development and maintenance efforts by up to 80 percent.
• Reducing pipeline runtime and cloud spending by using scalable cloud-based infrastructure more efficiently.
• Enhancing research productivity by enabling scientific users to be self-sufficient in launching pipelines and sharing and interpreting results.
• Accurately tracking spending against various grants and budgets to simplify accounting using Seqera and cloud-based cost accounting tools.
• Automating end-to-end actions such as creating and removing workspaces, managing users, and launching pipelines as samples appear in S3 buckets.
• Ensuring compliance and data governance by appropriately segmenting pipelines, datasets, and compute environments on HIPAA-compliant infrastructure.

Chronic liver diseases result from a range of metabolic or inflammatory dysfunctions, often associated with unhealthy lifestyle or continuous alcohol consumption. In the manifestation of chronic liver diseases, the deposition of lipid droplets in liver tissue (steatosis) contributes significantly to the proinflammatory milieu (steatohepatits) and leads to portal hypertension and fibrosis (cirrhosis). The underlying immune response as well as the resulting cell-cell interactions are still poorly understood.

In this webinar, Nico Kraus, clinical research associate at University Hospital Frankfurt, will highlight the differences between the various stages of chronic liver disease in animal models. Using the Cellscape Ultra High 17-Plex Immuno Panel on OCT murine liver tissue, Kraus and colleagues identified cell-cell interactions responsible for altering the immune response and metabolic changes in newly designed mouse models by spatio-temporal analysis.

Expanded carrier screening has come into practice as a reliable, fast, and relatively affordable screening method that allows for a population-based or universal testing for all couples looking to have children, regardless of their risk. Although many expanded carrier screening (ECS) tests exist, ECS has not been implemented as a population-based screening program anywhere in the world. Major issues to consider in adopting a new screening program include: development of well-defined positive and negative outcomes; demonstrated ability of providers to educate consumers about screening; the burden of disease in the population; genotype-phenotype correlations; long-term follow-up procedures; insurance coverage and implications for carriers; and measures of quality of life for carriers who do not have children with conditions.

In this webinar, Baosheng Zhu will share several clinical projects for carrier screening in China. An expanded public health perspective on carrier screening — beyond just the reproductive focus — could contribute to reduction of the prevalence of disease. These data demonstrate the feasibility of ECS and provide evidence that ECS is a promising alternative to traditional one-condition screening strategies. Additionally, Yannis Loukas, associate professor at the Athens School of Pharmacy, will discuss the challenges faced when providing ECS. While the merit of these tests is not in dispute, the challenge lies in providing information about the purpose, scope, cost and outcomes of different carrier screening options to meet this professional obligation in the context of a busy general or specialist practice.