11. Structural Variation Discovery and Interpretation in the Era of Cytogenomics

We will provide a joint session on the efforts of multiple consortia to map and characterize structural variation (SV) in human disease. We will introduce the transformative impact of genome sequencing on SV discovery, and efforts to create population-scale reference resources of SVs across diverse populations and human disease cohorts. We will then focus on the aggregation of data across the cytogenetics community to perform the largest sequencing study to date of balanced chromosomal rearrangements in developmental disorders, revealing the diverse insights and mechanisms by which these unique alterations can contribute to disease.