Pizza will be served at 11:45 a.m. The seminar will begin at noon.
Abstract
Roughly two decades after the conclusion of the Human Genome Project and enabled by exponential advances in DNA sequencing and computational technologies, we were recently able to complete the last 8% of the genome that remained unfinished. Our gapless “telomere-to-telomere” assembly revealed over 250 Mbp of novel sequence, comprising some of the most structurally variable regions of the genome and enabling new studies of genomic function and disease. However exciting, this landmark represents only a single genome out of 8 billion and we are far from a deep understanding life’s code. Next lies the challenge of making complete genome sequencing routine at birth and compiling the necessary data resources to enable predictive models of the genome for the diagnosis and treatment of disease. Adam Phillippy will present progress toward this goal in the context of the Human Pangenome Project and the associated computational methods under development.
Speaker Biography
Adam Phillippy is the director of the Center for Genomics and Data Science Research at the National Human Genome Research Institute (NHGRI) and a senior investigator within the National Institutes of Health Intramural Research Program. His lab develops and applies computational methods for the analysis of massive genomics datasets, focusing on the challenges of genome sequencing and comparative genomics.
As a bioinformatician who bridges the fields of computer science and genomics, Phillippy has developed numerous widely used computational methods for genome assembly, comparative genomics, microbial forensics, and metagenomics. Early in his career at the Institute for Genomic Research, he developed algorithms for whole-genome alignment that were used by the FBI to trace the origin of the 2001 anthrax attacks. After completing his PhD in 2010, Phillippy founded a bioinformatics group at the National Bioforensic Analysis Center and pioneered single-molecule sequencing for the reconstruction of microbial genomes. In 2015, he joined the NHGRI and shifted his focus to human and vertebrate genomics. Since then, his group has finished hundreds of reference genomes for humans, animals, and plants, including important endangered and agricultural species. In 2022, his team published the first truly complete “telomere-to-telomere” sequence of a human genome, revealing over 250 million bases of additional sequence and enabling new studies of genomic function and disease.
Phillippy received his BS in computer science from Loyola University Maryland under the advisement of Arthur Delcher, and his MS and PhD in computer science from the University of Maryland with Steven Salzberg. Phillippy is a recipient of the U.S. Presidential Early Career Award for Scientists and Engineers, the NIH Director’s Award, the Ilchun Award from the Korean Society for Biochemistry and Molecular Biology, the Natural and Applied Sciences Alumni Award from Loyola, and was named by TIME magazine as one of the world’s most influential people of 2022 for his leadership of the Telomere-to-Telomere Consortium.