This month, the NHGRI-Smithsonian traveling exhibition Genome: Unlocking Life's Code opened at the Peoria Riverfront Museum in Peoria, Illinois. In a couple of weeks, Dr. Les Biesecker (of NHGRI's Intramural Research Program) and I will visit Peoria to speak at a public symposium at the museum, introducing the local community to genomics and its relevance to modern medicine.
I continue to enjoy watching the exhibition tour North America and seeing how the different communities showcase genomics with affiliated programs and events.
This month's The Genomics Landscape features stories about:
All the best,
NHGRI has long promoted the widespread sharing of genomic data and the creation of robust resources to facilitate the organization, management, and access to those data. We have supported many databases over the years, and have participated in efforts to develop strategies that foster data science as biology moves toward an era of "big data." Emerging from these and analogous efforts in other disciplines have been 'core data resources' that are fundamental to research in the life sciences. These data resources are used and relied on by scientists around the world.
The research community now depends on these essential data resources. This has made it increasingly important to coordinate their operations and support. Currently, these data resources are funded by a variety of mechanisms that are subject to changing priorities, processes, and policies. To ensure that these data resources continue to be supported and meet the needs of the scientific community, funding agencies must work to monitor their operations and effectiveness.
Last November, I had the opportunity to participate in a meeting that brought together representatives of funding agencies around the world, data resource directors, and other stakeholders to discuss issues related to sustaining core data resources in the life sciences. Two papers have emerged from that meeting: (1) a short piece in Nature entitled "Data management: A global coalition to sustain core data," and (2) a longer meeting report entitled "Towards coordinated international support of core data resources for the life sciences" that is available in the preprint archive, bioRxiv.
These publications emphasize how life science research "relies extensively upon a set of core resources that archive, curate, integrate, analyze, and enable ready access to data, information, and knowledge generated worldwide by hundreds of thousands of researchers supported by hundreds of millions of dollars of annual research investment." We further describe how core data resources fall into two categories: archival data repositories which house primary data and knowledgebases which add value by combining primary data with other data.
Recommendations from the meeting, as presented in these papers, include: determining whether a data resource is a 'core resource' by considering criteria such as those used by the European life science infrastructure ELIXIR and adherence to FAIR principles to make data Findable, Accessible, Interoperable, and Reusable; ensuring that core data resources change as scientific needs change; and quantifying investments and scientific impacts of keeping particular datasets on an ongoing basis.
The meeting, and subsequent publications, further called for the creation of an international coalition of funders whose mission would be to "collectively support those core data resources deemed essential to the work of life science researchers, educators, and innovators worldwide" and "commit to the long-term shared responsibility" of supporting them. Ideally, the coalition would include representatives from all countries active in life science research. In particular, the coalition would determine the precise criteria for core data resources, whether or not there will be a binding policy regarding free access of data, and what fraction of research funding of participating countries should support core data resources.
These nascent ideas for sustaining core data resources at an international level are encouraging. What happens next? Numerous conversations emanating from the meeting and papers are ongoing, and a follow-up meeting is planned for this June. Stay tuned for additional information as plans for the possible creation of such a coalition take shape.
More from The Genomics Landscape:
For the second year in a row, NHGRI will host a National DNA Day Twitter Chat. This year, NHGRI will work with its partners to highlight resources on topics related to genomics and genetics that are available for students, teachers, and the general public. The Twitter Chat will take place on April 25 from 1:00-2:00 pm ET. To participate, use #DNADay17 and follow us at @DNAday. Another DNA Day event will occur on the evening of April 28, when NHGRI scientist Dr. Dayna Dreger will give a talk at the Smithsonian National Museum of Natural History that will be open to the public. For more information, please visit humanorigins.si.edu/about/events/hot-human-origins-today-topic-dna-day. To plan your own DNA Day event, visit the resource page here!
The NHGRI History of Genomics Program has been working diligently on its latest initiative: creating a collection of oral histories. For the past three years, this program has been interviewing and video recording major figures in genomics to capture their first-hand accounts of the stories that shaped the field. The interviews explore a diverse set of historic moments in genomics: mapping the yeast genome, learning how researchers developed the bioinformatics tools that contributed directly to the Human Genome Project and the Encyclopedia of DNA Elements (ENCODE) Project, and the genomics research that has helped shape how we think about health and race. The program has also released a two-part 'Director's Panel interview,' in which I am joined by the two former NHGRI Directors, Drs. James Watson and Francis Collins, to discuss the history of NHGRI from the announcement of the Human Genome Project through some recent accomplishments in genomics. For further details, visit genome.gov/27568324/nhgri-oral-history-collection-features-influential-genomics-researchers/.
NHGRI's Division of Genomic Medicine focuses on using genomic information to improve the diagnosis, treatment, and ultimately prevention of disease. On March 2, NHGRI co-sponsored a workshop with other NIH Institutes on the disease Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN), which can serve as a model for genomic medicine implementation. Information about the workshop is available here. SJS/TEN is an adverse drug reaction that affects the skin, and often results from specific genomic variants present in genes involved in immune response. The workshop brought together experts from disparate areas, with the goal of better understanding the disease and developing better ways to prevent it using genomic approaches.
The NHGRI Ethical, Legal, and Social Implications (ELSI) Research Program recently developed a resource for potential grant applicants. Thanks to some current and past ELSI grantees who were willing to share information from their NIH-funded ELSI research projects, a collection of grant applications and peer review reports has been made available online. The materials serve as examples of well-written applications that demonstrate excellent grantsmanship and collectively represent a variety of grant mechanisms and research methodologies used for ELSI research. To access the resource, see genome.gov/27565190/elsi-sample-applications-and-summary-statements/.
In March, the All of Us Research Program held a two-day workshop on the Return of Genetic Results. The workshop included an update on progress towards the launch of the program and strategies to recruit ~1 million diverse Americans from many backgrounds. The meeting emphasized panel discussions about the challenges and solutions associated with returning genetic results to participants. Click here to access the recording: Day 1 and Day 2.
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Posted: April 21, 2017