54gene aims to utilise African health data in global genomics research to improve healthcare worldwide
Paradigm4 has signed an agreement with 54gene, allowing 54gene to use Paradigm4’s Reveal Biobank app to explore, characterise and query 54gene’s African Health Information Ecosystem, which is a curated data source of clinical, phenotypic and genetic information from which insights can be generated to assist the development of treatments and diagnostics.
Africa contains more genetic diversity than any other continent, however, fewer than 3% of the genomes analysed to date have come from Africans1. As a result, information that could prove beneficial to the improvement of healthcare for all populations across the world may be missed.
54gene aims to change this by collaborating with researchers on the African continent and including the world’s most genetically diverse population in global genomics research.
The Reveal Biobank app that 54gene will use is built on top of Paradigm4’s computational database engine, SciDBTM, which is purpose-built to handle large-scale heterogeneous scientific data. The app provides researchers a way to access high-resolution, multi-dimensional and multi-attribute data. Users can combine data sources including genotypic, phenotypic, biomedical imaging, and health records for cross-validation and enrichment. It’s also optimised for scalable advanced analytics and machine learning.
Marilyn Matz, co-founder and CEO of Paradigm4, said: “We’re delighted to be partnering with 54gene on this exceptionally important project to create an inclusive bank of genetic data for African people that has the potential to change the way pharma companies develop personalized medicine. Our Reveal Biobank app accelerates integrative, multimodal, longitudinal, population-scale data science exploration and discovery, which will provide 54gene with an unrivalled ability to interrogate its extensive and diverse datasets.”
Delali Attiogbe Attipoe, COO at 54gene, said: “We discovered Paradigm4 via its work with the UK Biobank and were impressed by Reveal Biobank’s cohort selector tool and R API with complex computing capacity. This will help us conduct detailed analysis of a variety of genotypic and phenotypic data within our African Health Information Ecosystem. Working with Paradigm4 and its intuitive app will allow us to uncover genetic connections and associations that will help support the development of therapeutics for a variety of diseases. By better understanding the genetic drivers of disease, we can ensure that African people and the global community benefit from cutting-edge medical innovation developed from the insights we have generated.”
 A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog: https://genomebiology.biomedcentral.com/articles/10.1186/s13059-018-1396-2