Homo Sapien Variation Detection via Hybrid Sequencing Data. Homo sapiens

We developed a hybrid structural variant assembly (HySA) approach that integrates sequencing reads from next-generation sequencing and single-molecule sequencing technologies to accurately assemble and detect structural variations in human genomes. We applied HySA to a haploid hydatidiform mole genome (CHM1) and a diploid human genome (NA12878) for SV detection.