![]() ![]() It turns out that these genes are incredibly important for adaptation,’ he said. ‘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. This high-confidence region includes 91.5 of exon sequence and 95.2 of known. ![]() ‘Ever since we had the first draft human genome sequence, determining the exact sequence of complex genomic regions has been challenging. We find that 84 of an individual human genome can be sequenced confidently. ‘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. ![]() ‘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. (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 project was about a large coalition of scientists who mapped 92 of the human DNA. A key goal of whole genome sequencing (WGS) for human genetics studies is to interrogate all forms of variation, including single nucleotide variants (SNV). The full genome sequence helps to answer the question of what makes us distinctly human. The Human Genome Project deciphered most of the human genome back in 2003. The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. ![]()
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