Scientists finish sequencing of human genome
The process of human genome sequencing is finally complete 20 years after researchers first cracked the human gene code. This should usher in a new era of genomics and sharply increase our understanding of a wide variety of disorders affecting people. It could also lead to better genetic screening that enables quick and specific diagnostic tests to treat various maladies.
- In 2001, Celera Genomics and International Human Genome Sequencing published the first drafts of the human genome. That was a breakthrough moment in genomics, allowing scientists to understand human evolution and biology better.
- But scientists at that time were not able to decode 15% of the genome sequence because they didn’t have the technology. They made more progress over the years, but even by 2013, 8% of the genome (all genes together) still had not been sequenced.
- Now, researchers at the Telomere-to-Telomere (T2T) consortium, an international collaboration, have sequenced the “first truly complete human reference genome”.
- Preprint paper titled ‘The complete sequence of a human genome’ which dubs the new sequence T2T-CHM13.
- Human genome is the complete set of the DNA. DNA strands are like a four-letter language — four chemical units or bases that are the alphabet.
- The ‘letters’ combine specifically with ‘letters’ in the opposite strand to form ‘words’, encoding information.
- All these ‘words’ are stored in the chromosomes in human cells. If a human genome were a book, it would have around 3-billion words (base pairs) across 22 chapters (chromosomes).
- So, with 8% of the genome not sequenced, it meant some pages of this book were missing. This has now been plugged.