Robert Kimberly, M.D., UAB, and Devin Absher, HudsonAlpha, use pilot grant to discover and understand relationship between genetic variants that occur with advancement of precision medicine

As we move forward in Precision Medicine, an understanding of the relationship among genetic variants that occur in health and disease is essential. Are given variants on the same chromosome strand and able to interact or are they on different strands?  New technology, available through the 10X Genomics approach to next generation sequencing, yields genome-wide definition of sequence variations on each individual chromosome strand.  These “phased haplotypes” enable definition of structural variants in the genome of each donor, resolution of compound heterozygotes, definition of ancestry-specific haplotypes and of regional haplotypes in admixed populations. The scientific insights enabled by the data generated include interactions in gene regulation in autoimmune disease and the exploration of regional admixture in relation to disease risk loci in African American participants.  The project will also enable identification of the novel receptors for antibody and address much of the ‘missing heritability’ which cannot be addressed by ‘one SNP at a time’ association studies.  “Each of these analyses reflects our commitment to the use of genomic information to understand what causes autoimmune disease and to serve precision medicine. “The support of the Center for Genomic Medicine will not only provide data for several extramural grant applications in human genetics but will also establish the UAB-HAIB team as a national and international leader in the immunogenetics,” said Dr. Robert Kimberly, team leader and Director of the Center for Clinical and Translational Science.  “None of this would be possible without our team including Devin Absher, Winn Chatham, Jeff Edberg, Curtis Hendrickson, Travis Ptacek and all of the informaticists of the CCTS, Informatics Institute and HudsonAlpha.”