

‘The complete blueprint is going to revolutionise the way we think about human genomic variation, disease and evolution. I am thrilled that we got the job done,’ said Evan Eichler, a researcher at the University of Washington School of Medicine and co-chairman of the Telomere to Telomere (T2T) consortium which conducted the work. The feat, made possible by ever-improving genome sequencing technologies and a consortium of more than 100 scientists, sets a new benchmark for understanding human genetic diversity in all its glory. ‘Ever since we had the first draft human genome sequence, determining the exact sequence of complex genomic regions has been challenging. ‘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,’ he added. Overall, any given human being is about 99. ‘Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,’ said Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, America. The Human Genome Project mapped out both our genes and the DNA in between, and set out to see how these tiny variations in DNA are linked to variations in physical traits and disease. The project was about a large coalition of scientists who mapped 92 of the human DNA. The projects initial findings were announced in 2000, with more complete results a couple of years later, but human efforts to map and understand DNA. (Picture: National Human Genome Research Institute)īut developments have made filling in the gaps possible, and have helped to reveal parts of the human genome that had evaded scientists. The Human Genome Project deciphered most of the human genome back in 2003.

The full genome sequence helps to answer the question of what makes us distinctly human. For the top two panels, reads uniquely mapped to the genome were used.
