Complete Human Genome Sequenced for First Time genetics science
has now unveiled a complete version. According to the T2T researchers, having a complete, gap-free sequence of the roughly three billion base pairs in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases. They have already discovered more than two million additional variants in the human genome and provided more accurate information about the genomic variants within 622 medically relevant genes.
Sequencing machines then read the individual letters in each piece, and researchers try to assemble the pieces in the right order, like putting together an intricate puzzle. “Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,” said Dr. Eric Green, director of the National Human Genome Research Institute.
The full sequencing builds upon the work of the Human Genome Project, which mapped about 92% of the genome, and research undertaken since then. They noted that most of the newly added DNA sequences were near the repetitive telomeres and centromeres .
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