Human Genetics Research Seminar Series: Ira Hall, PhD

Dr. Hall's research career spans the fields of genetics, genomics, bioinformatics and data science. He received a B.A. in Integrative Biology from the University of California at Berkeley (1998), and worked as a technician for 2 years in Sarah Hake's plant genetics group at the USDA/ARS Plant Gene Expression Center. He received his Ph.D. in genetics from Cold Spring Harbor Laboratory (2003), where his work in Shiv Grewal's laboratory established the first direct link between RNA interference and chromatin-based epigenetic inheritance. As a postdoc with Michael Wigler (2004) and independent Cold Spring Harbor Laboratory Fellow (2004-2007), Dr. Hall used microarray technologies and mouse strain genealogies to conduct the first systematic study of DNA copy number variation hotspots. As a faculty member at the University of Virginia (2007-2014), Washington University (2014-2020) and Yale (2020-present), his work has sought to understand the causes and consequences of genome variation in mammals, with an increasing focus on computational methods development and human genetics. His group has developed bioinformatics tools for variant detection, variant interpretation, sequence alignment, data processing, and data integration. He has led genome-wide studies of human genome variation, heritable gene expression variation, human genetic disorders, tumor evolution, mouse strain variation, genome stability in reprogrammed stem cells, and single-neuron somatic mosaicism in the human brain. Dr. Hall's work has been featured in Science Magazine's Breakthrough of the Year (2003 & 2007), the NIMH Director's "Ten Best of 2013" and The Scientist (2013), and he has received several prestigious awards including the AAAS Newcomb Cleveland Prize (2003), the Burroughs Wellcome Fund Career Award (2006), the NIH Director's New Innovator Award (2009), and the March of Dimes Basil O'Connor Research Award (2010). He has also served as an Associate Editor at Genome Research (2009-2014) and Genes, Genomes and Genetics (2011-2018).

Most recently, Dr. Hall has played a leadership role in several large collaborative projects funded by NIH/NHGRI including the Centers for Common Disease Genomics, the AnVIL cloud-based data repository and analysis platform, and the Human Pangenome Project. His current work is focused on two broad goals: (1) mapping variants and genes that confer risk to human disease, with ongoing projects focused on coronary artery disease and cardiometabolic traits in unique and underrepresented populations, and (2) developing methods for the detection and interpretation of human genome variation, with an emphasis on structural variation and other difficult-to-detect forms, and on comprehensive trait association in human disease studies.