PacBio Whole Genome Sequencing to identify structural variation in Han Chinese Trio

The aim of the project is to comprehensively identify structural genomic variation for trios, for which experimental data from numerous complementary technologies including PacBio long read SMRT sequencing, optical mapping, 3 dimensional chromatin mapping and jumping libraries will be obtained. The data from these technologies, aimed at the same individuals, will provide a rich dataset from which the 1000 Genomes SV Consortium can produce a gold standard for human structural genomic variation and understand comprehensively the full-spectrum of inherited and de novo mutation. This gold standard will help researchers around the world accurately assemble human whole genome sequences for biological research and the practice of personalized medicine. UM HIR has run PacBio sequencing for one trio (Han Chinese, 40-fold effective sequence coverage for the child and 20x for both parents). The data is generated using P6C4 SMRT sequencing technology from insert libraries >20 kbp in length and a median read length >10 kbp.