End-to-End Genome Sequencing
Context
- Recently, a preprint titled “The complete sequence of the human genome” was posted in the online repository bioRxiv.
About
- In this preprint, scientists from the Telomere-to-Telomere (T2T) Consortium, an international collaboration of around 30 institutions, reported the most complete sequencing of the human genome until now.
Gene Sequencing
- DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule.
- The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules.
- DNA sequence information is important to scientists investigating the functions of genes.
Background
- The Human genome project announced in 1990 announced a complete human genome but about 15% of it was incomplete.
- Due to limitations of technology scientists were not able to piece together some of the repetitive parts of the human genome.
Recent developments
- This time researchers discovered over a hundred new genes that code for proteins.
- The total size of the genome they have sequenced is close to 3.05 billion base pairs.
- This adds 200 million base pairs to the last draft of the human genome that was published in 2013.
- The results come with the caveat that about 0.3% may still have errors, and that among the sex chromosomes, only the X chromosome has been sequenced.
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