Explained: What a truly complete human genome means – Times of India

Genome sequencing has become a buzzword in the pandemic era, with scientists constantly trying to decode the novel coronavirus SARS-CoV-2 and its multiplying mutations. But it is the study of the human genome that has seen a breakthrough recently, possibly giving us the ability to read a complete genetic blueprint for building a human being. The Telomere-to-Telomere (T2T) consortium, an international team of scientists, claims to have finally decoded all of a persons DNA with no gaps and an unprecedented level of accuracy.In a recent preprint research paper, the T2T consortium discusses the first truly complete 3.055 billion base pair (bp) sequence of a human genome, dubbed T2T-CHM13. According to experts, whereas gene discovery once drove DNA sequencing, now the sequencing of entire genomes drives gene discovery. The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. Hence, it is essential that the scientific community be informed about the accuracy of this reference sequence. Yet, the existing reference sequences were far from complete.

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Explained: What a truly complete human genome means - Times of India