The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly. The Human Variome Project provides a central coordinating function for national and international efforts to integrate the collection, curation, interpretation, and sharing of information on variation in the human genome into routine clinical practice and research. We are an active and growing Consortium of over 1,100 individual researchers, healthcare professionals, policy makers, and organisations from 81 countries that collaborate to develop and maintain the necessary standards, systems and infrastructure to support global-scale genomic knowledge sharing. The Project itself is not directly involved in the development and operation of physical data storage and sharing infrastructure; that is the responsibility of international disease groups, national consortia/health systems and individual members.
Professor Yuan-Tsong (Y-T) Chen and Mrs. Alice Der-Shan Chen were both originally from Taiwan and have been committed to biomedical research for over 30 years. They recognise the tremendous impact that genetics and genomics have had on the improvement of health and treatment of diseases and wish to establish the Chen Award to celebrate research accomplishments in Human Genetics and Genomics in Asia Pacific. Professor Chen received his MD degree from National Taiwan University (Taipei) and a PhD from Columbia University (USA). He is currently a Distinguished Research Fellow and Director of the Institute of Biomedical Sciences, Academia Sinica, Taiwan, and Professor of Pediatrics and Genetics at Duke University Medical Center (USA).
Professor Chen is a physician/scientist, recognised for his work on human genetic disorders. His translational research leads to the development of now standard therapies for two devastating inherited metabolic diseases: a simple and effective cornstarch therapy for severe hypoglycemia in glycogen storage diseases and an enzyme replacement therapy, the first ever treatment, for a debilitating, progressive and often fatal myopathy called Pompe disease. Professor Chen has also identified the genetic basis of and developed DNA-based diagnosis for several major heritable diseases, and more recently, his team in Taiwan has uncovered genes/SNPs associated with drug-induced Stevens-Johnson syndrome and warfarin sensitivity.
His latest pharmacogenomic studies of adverse drug reactions paved the way for personalised medicine by preventing drug toxicity with a gene test. Professor Chen is an elected member of Academia Sinica and of the Academy Sciences for the Developing World.
inqaba biotec™ is a unique South African Genomics company. inqaba biotec™ is a provider of products in Life Sciences and Molecular Diagnostics as well as services such as Next generation DNA sequencing, SNP analysis, Methylation analysis, Bioinformatics support, Medical genomics analysis, Surgimaggs (sterile medical wound cleaning maggots) and many more.
PacBio is the leader in long-read sequencing. Our SMRT® Sequencing Systems provide full access to human genetic variation through continuous long reads with high consensus accuracy, and uniform coverage. Average read lengths >10 kb reveal previously hidden structural variants and produce direct phasing information in both WGS and targeted applications.
Tomy Digital Biology Co., LTD. is PacBio’s official distributor in Japan.
BGI was founded in 1999 with the vision of using genomics to benefit mankind and has since become the largest genomic organization in the world. With a focus on research and applications in the healthcare, agriculture, conservation, and environmental fields, BGI has a proven track record of innovative, high profile research.
BGI’s distinguished achievements have made a significant contribution to the development of genomics throughout the world. BGI’s goal is to make state-of-the-art genomics highly accessible to the global research community and clinical markets by integrating the industry’s broadest array of leading technologies, including BGI's own BGISEQ and MGISEQ sequencing platforms, economies of scale, and expert bioinformatics resources.
Global Variome Limited (GVL) is a not-for-profit based in the United Kingdom that was founded in 2016 to provide support services to the international coordination work of the Human Variome Project and to act as the legal instrument that allows the Human Variome Project to formally represent its Consortium members and to undertake certain activities on behalf of the members. GVL took over these functions from the previous entity, Human Variome Project International Limited, in 2016.
The Human Variome Project is an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.
The Human Variome Project provides a central coordinating function for national and international efforts to integrate the collection, curation, interpretation, and sharing of information on variation in the human genome into routine clinical practice and research. We are an active and growing Consortium of over 1,100 individual researchers, healthcare professionals, policy makers, and organisations from 81 countries that collaborate to develop and maintain the necessary standards, systems and infrastructure to support global-scale genomic knowledge sharing. The Project itself is not directly involved in the development and operation of physical data storage and sharing infrastructure; that is the responsibility of international disease groups, national consortia/health systems and individual members.
Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and function. These systems are enabling studies that were not even imaginable just a few years ago, and moving us closer to the realization of personalized medicine. With rapid advances in technology taking place, it is mission-critical to offer solutions that are not only innovative, but flexible, and scalable, with industry-leading support and service. We strive to meet this challenge by placing a high value on collaborative interactions, rapid delivery of solutions, and meeting the needs of our customers.
About Twist Bioscience Corporation
At Twist Bioscience, we work in service of customers who are changing the world for the better. In fields such as medicine, agriculture, industrial chemicals and data storage, by using our synthetic DNA tools, our customers are developing ways to better lives and improve the sustainability of the planet. The faster our customers succeed, the better for all of us, and Twist Bioscience is uniquely positioned to help accelerate their efforts.
Our innovative silicon-based DNA Synthesis Platform provides precision at a scale that is otherwise unavailable to our customers. Our platform technologies overcome inefficiencies and enable cost-effective, rapid, precise, high-throughput synthesis and sequencing, providing both the quality and quantity of the tools they need to rapidly realize the opportunity ahead. For more information about our products and services, please visit www.twistbioscience.com. Twist Bioscience is on Twitter. Sign up to follow our Twitter feed @TwistBioscience at https://twitter.com/TwistBioscience.
DataDirect Networks (DDN) is the world’s leading big data storage supplier to data-intensive, global organizations. For almost 20 years, DDN has designed, developed, deployed and optimized systems, software and storage solutions that enable enterprises, service providers, universities and government agencies to generate more value and to accelerate time to insight from their data and information, on premise and in the cloud. Organizations leverage the power of DDN storage technology and the deep technical expertise of its team to capture, store, process, analyze, collaborate and distribute data, information and content at the largest scale in the most efficient, reliable and cost-effective manner. DDN customers include many of the world’s leading financial services firms and banks, healthcare and life science organizations, manufacturing and energy companies, government and research facilities, and web and cloud service providers. For more information, go to www.ddn.com or call 1-800-837-2298.
About Takara Bio:
Takara Bio, one of the leading and innovative biotechnology companies established in Japan, develops, manufactures, and distributes a wide range of life science research reagents to customers worldwide offering a complete portfolio of next-gen sequencing solutions for low-input and single cell DNA-seq and RNA-seq products directly from cells and clinically relevant samples.
Recently we announced that the “SMART-Seq v4 Ultra Low Input RNA Kit for Sequencing” has been selected for the development of gene expression profiles of individual brain cells as part of the Allen Cell Types Database, a public resource available from the Allen Institute for Brain Science. The key technology is our proprietary SMART (Switching Mechanism at 5’ end of RNA Template) technology that can ensure full-length, unbiased mRNA coverage.
Further, ThruPLEX DNA-seq kit, a library preparation kit for Illumina NGS platforms, can be used for picogram-order DNAs in a single-tube format from a variety of samples including genomic DNAs, cell-free DNAs, DNAs from FFPE.