A Journey to Spur Innovation and Discovery

Guest post by Valerie Schneider, PhD, staff scientist at the National Library of Medicine’s National Center for Biotechnology Information, National Institutes of Health.

It’s been said that nature is the best teacher. When it comes to understanding human biology and improving health, examples abound of the advances that have been made from the study of a diverse set of non-human organisms. Over the last two centuries, the study of nematode worms has taught us about longevity and mRNAs (the biological molecule that is the basis for several COVID-19 vaccines), common fungi about cell division and cancer, and fruit flies about many things, from the role of chromosomes in heredity to our circadian rhythms. The ability to create targeted alterations in the genomes of model organisms has been transformative for studies to establish the function of specific genes in the etiology of human disease.

The modern era of genomic biology, in which genome sequencing and assembly are accessible to more researchers than ever before, provides data from an even greater range of organisms from which we might learn. Today, we rely not only on primate models, but on a whole host of species: for example, swine to understand organ transplantation, songbirds to understand vocalization and learning, and bats and pangolins to teach us about the evolution of the SARS-CoV-2 virus and how to fight its spread.

These rapidly growing collections of sequence and other data on species across the tree of life offer enormous promise for discoveries that have the potential to improve human health. To better enable such discoveries, with the support of NIH, NLM is planning a major modernization of its resources and their underlying infrastructure.

This modernization will support the needs of users engaged in data search and retrieval, gene annotation, evaluation of sequence quality, and comparative analyses. The new infrastructure, user interfaces, and tools should result in an improved experience for researchers doing a wide range of work, and also facilitate better data submissions.

This revamping aligns with NIH’s Strategic Plan for Data Science, which provides a roadmap for modernizing the NIH-funded biomedical data science ecosystem, as well as NLM’s Strategic Plan, which furthers NLM’s commitment to provide data and information to accelerate biomedical discovery and improve health. NLM and NIH are committed to providing researchers with modern, stable, and cloud-oriented technologies that support research needs.

Over the last few years, NLM has demonstrated this commitment by re-designing several flagship products, including the PubMed database for searching published biomedical literature, the ClinicalTrials.gov database of information on privately and publicly funded clinical trials, and the Basic Local Alignment Search Tool (BLAST) for finding regions of similarity between biological sequences. As part of NIH’s Science and Technology Research Infrastructure for Discovery, Experimentation, and Sustainability (STRIDES) Initiative, NLM also made the data from its massive (36 petabyte) Sequence Read Archive (SRA) available on two commercial cloud platforms, facilitating large-scale computational research that would otherwise be difficult for many researchers. Revamping these resources has positioned them to support both the current and future needs of NLM’s diverse audience of researchers, clinicians, data scientists, educators and others.

Importantly, this current initiative to modernize NLM products, tools, and services, and concurrently develop content, will include extensive engagement with the research community, just as we’ve done with previous re-design efforts. The NLM is committed to offering interfaces accessible to both novices and experts. Additionally, NLM believes a key part of the next generation of its data resources requires an infrastructure that supports an ongoing, dynamic exchange of content, including contributions of metadata and gene functional information from knowledge builders in the community to complement and enhance NIH-provided content.

Community engagement will also ensure that externally sourced content is provided in ways that maintain the high value and trustworthiness of the datasets. Additionally, data connections that make the content of this new resource accessible to external knowledgebases containing other datatypes, such as images, will further promote integrative data analyses that support scientific discovery.

Many opportunities exist to streamline processes, look across resources, and gain insights that will provide new ways of learning. Through NLM’s continued commitment to modernization initiatives, we are ready to again improve the user experience for accessing, analyzing and visualizing sequence data and related information. Nature continues to be our best teacher — and we are now poised to learn from her in an exciting new classroom.

We invite you to come on this journey with us.

Valerie Schneider, PhD, is the deputy director of Sequence Offerings and the head of the Sequence Plus program. In these roles, she coordinates efforts associated with the curation, enhancement, and organization of sequence data, as well as oversees tools and resources that enable the public to access, analyze, and visualize biomedical data. She also manages NCBI’s involvement in the Genome Reference Consortium, the international collaboration tasked with maintaining the value of the human reference genome assembly.

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