| المؤلفون: |
Taylor DJ; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu., Eizenga JM; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Li Q; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu., Das A; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu., Jenike KM; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; email: kjenike1@jh.edu., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; email: eimear.kenny@mssm.edu., Miga KH; Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Monlong J; Institut de Recherche en Santé Digestive, Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse, France; email: jean.monlong@inserm.fr., McCoy RC; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu., Paten B; Department of Biomolecular Engineering, University of California, Santa Cruz, California, USA.; Genomics Institute, University of California, Santa Cruz, California, USA; email: jeizenga@ucsc.edu, khmiga@ucsc.edu, bpaten@ucsc.edu., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland, USA; email: qli111@jh.edu, arun.das@jhu.edu.; Department of Biology, Johns Hopkins University, Baltimore, Maryland, USA; email: dtaylo95@jhu.edu, rajiv.mccoy@jhu.edu, mschatz@cs.jhu.edu. |
| مستخلص: |
The Human Genome Project was an enormous accomplishment, providing a foundation for countless explorations into the genetics and genomics of the human species. Yet for many years, the human genome reference sequence remained incomplete and lacked representation of human genetic diversity. Recently, two major advances have emerged to address these shortcomings: complete gap-free human genome sequences, such as the one developed by the Telomere-to-Telomere Consortium, and high-quality pangenomes, such as the one developed by the Human Pangenome Reference Consortium. Facilitated by advances in long-read DNA sequencing and genome assembly algorithms, complete human genome sequences resolve regions that have been historically difficult to sequence, including centromeres, telomeres, and segmental duplications. In parallel, pangenomes capture the extensive genetic diversity across populations worldwide. Together, these advances usher in a new era of genomics research, enhancing the accuracy of genomic analysis, paving the path for precision medicine, and contributing to deeper insights into human biology. |
