Finally, scientists have published the first complete, gapless sequence of a human genome nearly two decades after the Human Genome Project introduced the first draft human genome sequence. This milestone will significantly add to our knowledge of chromosomes, including more accurate maps for five chromosome arms, which opens new lines of research and answer basic biology questions about how chromosomes properly segregate as well as divide. Read more for a video and additional information.
This now-complete human genome sequence is going to be particularly valuable for studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs. The data is paramount in understanding the genetic contributions to certain diseases and for using genome sequence as a routine part of clinical care in the future. Human Genome Project’s work mapped about 92% of the genome, while the last 8% basically includes numerous genes and repetitive DNA and is comparable in size to an entire chromosome.
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Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint. This foundational information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will empower genetic studies of human disease,” said Eric Green, M.D., Ph.D., director of NHGRI.
