The Genome Informatics Section develops and applies computational methods for the analysis of massive genomics datasets with a focus on problems related to genome sequencing. For example, high-quality genome sequence forms a fundamental basis of research, but current DNA sequencing technologies cannot read an entire genome in one pass. Instead, a genome must be computationally reconstructed from many smaller pieces in a process known as genome assembly. This is a difficult process that can leave numerous gaps and errors in an assembled genome, which will affect the accuracy of all downstream analyses. The Genome Informatics Section aims to improve such foundational processes and translate emerging genomics technologies into practice.
The Section is currently developing new bioinformatics methods for the assembly, comparison, and exploration of genomes, with applications to the real-time diagnosis of infectious disease, cancers, and genetic disorders. As technologies change and the cost of sequencing continues to plummet, new computational methods are needed to keep pace. Recent work by the Section includes the development of scalable algorithms for assembling whole human genomes from single-molecule sequencing. Thanks to these emerging technologies, human assemblies are now more complete than ever before and these results are helping to uncover novel variation and chart the last unknown regions of the genome. In parallel, these same techniques are being used to reconstruct the genomes of important model organisms, pathogens, vectors, and agricultural genomes. These data are helping to model biological processes, trace outbreaks, and fight disease in humans, plants, and animals.
Members of the Section have developed many widely used bioinformatics methods and are highly collaborative, often tackling new problems with multiple partner laboratories. In general, bioinformatics has a long history of bridging fields, openly sharing data and code, and enabling new advances in genomics. Following this tradition, the Section continues to foster open and interdisciplinary collaboration between the computational, biological, and medical sciences for the advancement of global health.
Dr. Phillippy is head of the Genome Informatics Section and a tenure-track investigator in the Computational and Statistical Genomics Branch at the National Human Genome Research Institute. In 2000, Dr. Phillippy began working as a bioinformatics research assistant for Dr. Arthur Delcher at Loyola University Maryland, and received his B.S. in computer science in 2002. Following this, he worked for four years at The Institute for Genomic Research (TIGR) under the supervision of Dr. Mihai Pop, where he developed several foundational tools for genome assembly and alignment. Dr. Phillippy was also an integral contributor to TIGR's investigation of the 2001 anthrax attacks, having developed methods that were key to tracing the source of the outbreak. In 2006, he began his graduate work under the advising of Dr. Steven Salzberg at the University of Maryland, researching new methods for pathogen detection using PCR, microarrays and DNA sequencing.
Dr. Phillippy received his Ph.D. in computer science in 2010, and immediately joined the National Biodefense Analysis and Countermeasures Center (NBACC) as a principal investigator, where he established and led the National Bioforensic Analysis Center's first bioinformatics group. During this time, he pioneered the use of single-molecule sequencing for the reconstruction of complete genomes, and helped the NBACC become the first laboratory in the United States to achieve ISO 17025 accreditation for whole-genome sequencing.
In 2015, Dr. Phillippy joined the National Human Genome Research Institute and founded the Genome Informatics Section, where his current research group resides.
Scientific Focus Areas
1. Computational Biology
2. Genetics and Genomics
3. Microbiology and Infectious Diseases
Posted: March 29, 2016