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.

https://www.thehindu.com/todays-paper/tp-miscellaneous/tp-others/end-to-end-genome-sequencing/article35660569.ece