Resolution of Ring Chromosomes, Robertsonian Translocations, and Complex Structural Variants from Long-Read Sequencing and Telomere-to-Telomere Assembly

These data were generated to test the hypothesis that long-read whole genome sequencing and optical genome mapping could resolve clinically relevant human structural genomic variation involving complex and/or repetitive portions of the genome.]]>
The study included individuals with structural genomic variation involving complex and/or repetitive portions of the genome, and their family members. Individuals not satisfying those criteria were not included.]]>