Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere
Adam M Phillippy1, Yafei Mao2, Yu Kang3
1Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Abstract:
Two decades after the Human Genome Project, we finally have the ability to read the complete genome of any human and (nearly) any species. These sequences provide the ideal foundation for training predictive models of the genome that will accelerate basic research, enable accurate diagnostics, and guide precision medicine.
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