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Elsevier and Illumina: A meeting of mind and spirit

Posted on August 22nd, 2016 by in Pharma R&D


One of the strongest arguments for using the molecular biology modeling tool Pathway Studio is the rich content underlying its knowledge database. This was driven home recently in a conversation with the DNA/RNA sequencing company Illumina.

Illumina had just decided to partner with Elsevier by incorporating Pathway Studio into its Base Space Correlation Engine platform. We explained that Pathway Studio is continually updated and mines data sources across the continuum of both known and rare diseases. Illumina’s customers are engaged in a wide range of scientific investigations, so they were excited to test our capabilities!

The Illumina team knew that searching the rare inherited disorder, propionic acidemia, resulted in approximately 500 articles in PubMed. They wondered if we could go beyond those general results.

I keyed the term into the Pathway Studio search box and gave it a whirl. Within moments, it returned 133 relations corresponding to 337 publications across multiple entity types. That affirmed Pathway Studio’s ability to deliver relatively obscure but relevant content on the fly.

It was also a moment that affirmed the driving force of both teams: to help patients. Illumina states on its website, “Our goal is to improve human health by enabling our customers to accelerate the collection, analysis, and application of biological information.” The company’s commitment to using its next-generation sequencing (NGS) platform for cystic fibrosis and other rare genetic and inherited disorders  reminded me of Elsevier’s support for the UK charity Findacure, one of numerous examples of how our team members are also working to improve human health.

What can R&D scientists do now as a result of the collaboration to foster this goal? Pathway Studio currently contains some 1800 pathways. The disease pathways alone feature profiles of more than 100 diseases, including asthma, diabetes, and many different cancer types, as well as pathways for genetic disorders such as Duchenne muscular dystrophy and Tay Sachs disease. The Cell Processes Pathway collection includes pathways such as protein folding, apoptosis, and cell cycle regulation. The latest version of the software also includes tools for browsing and filtering DNA variant data from NGS projects, and assessing the effects of these mutations on both protein function and disease progression—a particularly good fit for Illumina users.

As part of the collaboration, Correlation Engine users can now transfer and visualize their findings in Pathway Studio’s Pathway Viewer, which provides a detailed snapshot of the functional relationships among genes of interest. The visualizations are built on the deep content that is unique to Elsevier—e.g., PubMed abstracts, full-text articles from the literature, genomic data and other public data/information sources—and will likely reveal new insights to researchers exploring molecular interactions and causal relationships associated with genetic variants and disease pathways.

Teams on both sides of the collaboration are excited about the possibilities—more accurate analyses, delivered more rapidly and with less complexity to enable successful outcomes for patients.


All opinions shared in this post are the author’s own.

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