Discovery and genotyping of structural variation from long-read haploid genome sequence data. Homo sapiens

In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single molecule, real-time (SMRT) sequencing data from two haploid human genomes. Using an assembly-based approach (SMRT-SV), we systematically assessed each genome independently for structural variants (SVs) and indels resolving the sequence structure of genetic variants from 2 bp to 28 kbp in length.