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Scientists have completed the human genome sequencing after 22 years.

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Published By:
Peeyush Ghalot
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(Image Courtesy: - Genetic Literacy Project)

After over two decades of work, a major worldwide team lead by the US National Institutes of Health has finalized the DNA sequencing of all protein-coding genes in the human genome. The Human Genome Project, which began in 2000 at the University of California-Santa Cruz, was only able to sequence and study 92 percent of human genome. The 151 million base pairs of sequence data scattered throughout the genome, termed "junk DNA" by some because of its lack of obvious purpose, remained a mystery. The latest results show cryptic non-coding DNA sequences that do not produce protein but play key roles in numerous cellular operations and may be at the foundation of illnesses like cancer, in which cell development is uncontrolled. A group of researchers founded the Telomere-to-Telomere (T2T) collaboration to fill in the gaps. T2T-CHM13, the latest reference genome, includes almost 200 million base pairs of new DNA sequences, including 99 genes that are likely to code for proteins and nearly 2,000 candidate genes that need more research. The new sequence has filled in some of the most intricate portions of the genome, including the whole short arms of five human chromosomes. These include highly repetitive DNA sequences found in and around critical chromosomal structures like telomeres, which regulate the separation of replicated chromosomes during cell division, and centromeres, which coordinate the separation of replicated chromosomes during cell division. The findings show that the T2T genome might have a significant impact on genetic disease research, and that patients may benefit from more accurate diagnosis in the future.

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