Human Genetics in Stereo Through Synergizing Statistical, Molecular and Clinical Discoveries

This meeting will be centered on the idea of synergizing disparate methodological threads in human genetics. Technological advances led to a rapid accumulation of genomic datasets at scale. Application of statistical genetics and population genetics analytical methods resulted in catalogs of prioritized human DNA variants with the potential phenotypic impact and the broad characterization of human genetic variation. Clinical genetics relying on sequencing technology detailed phenotypic consequences of myriads of de novo mutations and rare alleles of large effects. Molecular genetics equipped by new genomic technology is mapping out the landscape of gene regulation and the molecular consequences of regulatory variants. The pace of progress is equally fast for the studies of protein fitness landscapes and functional consequences of protein coding variants. Despite these impressive developments, there is a clear disconnect between the molecular effects of genetic variants and their impact on phenotypes and fitness. This meeting will include human geneticists of all stripes. The discussion will revolve around reconstructing the stereoscopic puzzle of human genetic variation.