In 2022, NHGRI convened a Blue Ribbon Panel that spent the better part of a year examining the successes, opportunities, and challenges of the institute’s Intramural Research Program (IRP), with an eye towards providing expert advice for keeping the program at the forefront of genomics over the next decade. Among the many difficult questions discussed was “how can NHGRI’s IRP be a recognized leader in genomic data science?"

Ongoing advances in genomics tools and techniques are leading to the generation of increasingly complex datasets. To keep up, researchers need to develop and use more powerful computational approaches for deciphering biological knowledge from large-scale genomic datasets. For example, new computational-based strategies are needed to connect genome variation to genome function in both basic and clinical research studies.

After a series of lively discussions and brainstorming sessions carried out over months, the Blue Ribbon Panel’s recommendations included the creation of a new program focused on genomic data science, which directly led to the establishment of the NHGRI Center for Genomics and Data Science Research (CGDSR). The CGDSR actually represents a reconfiguration of the previously existing Computational and Statistical Genomics Branch to meet the growing challenges and opportunities for using computational approaches to study genomes.

Researchers in the CGDSR will develop and apply computational approaches to analyze large sets of genetic and genomic data, with an emphasis on identifying the genomic contributions to human disease. The group will serve as a focal point at NIH for analyzing genomic data in laboratory and clinical studies.

NHGRI recently appointed Adam Phillippy, Ph.D., as the founding director of the CGDSR. Dr. Phillippy, a senior investigator and head of the Genome Informatics Section within the NHGRI IRP, has been at NIH since 2015. His research group develops and uses computational methods to sequence and analyze genomes. Notable achievements of his research group include playing a pivotal role in generating the first truly complete human genome sequence as part of the Telomere-to-Telomere Consortium. As a major participant of the international Human Pangenome Reference Consortium, Dr. Phillippy also contributed to the first draft of the human pangenome, a more complete and sophisticated collection of genome sequences that captures significantly more human diversity.

Prior to joining NHGRI, Dr. Phillippy worked at the National Bioforensic Analysis Center, where he founded and led a bioinformatics group. During that time, his group developed genomic methods and analyzed DNA sequence data for the Federal Bureau of Investigation. Before that, he received a B.S. in computer science from Loyola University Maryland and a M.S. and a Ph.D. in computer science from the University of Maryland, College Park.

As the CGDSR Director, Dr. Phillippy provides scientific and administrative leadership, fosters a collaborative and inclusive research environment, and ensures appropriate mentorship for researchers. Under his stewardship, data science and computational biology will grow within the NHGRI IRP in the coming years, consistent with developments across many areas of biomedical research.