CEES Extra seminar: Can Nanopore sequencing finally finish the human genome?
By Dr. Adam Philippy, National Human Genome Research Institute
A complete and accurate genome sequence forms the basis of all downstream genomic analyses. However, even the human reference genome remains incomplete, which affects the quality of experiments and can mask true genomic variations. For most other species, high-quality reference genomes do not exist.
Long-read sequencing technologies from Pacific Biosciences and Oxford Nanopore have begun to correct this deficiency and enabled the automated reconstruction of reference-quality genomes at relatively low cost. Further combination of these technologies with complementary scaffolding and phasing approaches such as chromatin conformation capture (Hi-C) may soon enable the complete reconstruction vertebrate haplotypes. In this talk Dr. Phillippy will review recent application of these approaches, and present a new strategy for the automated assembly of high-quality vertebrate reference genomes.
NIH, National Human Genome Research Institute