For the first time scientists have completely sequenced a human chromosome
In 2003, history was made. For the first time, the human genome was sequenced. Since then, technological improvements have enabled tweaks, adjustments, and additions, making the human genome the most accurate and complete vertebrate genome ever sequenced.
Nevertheless, some gaps remain – including human chromosomes. We have a pretty good grasp of them in general, but there are still some gaps in the sequences. Now, for the first time, geneticists have closed some of those gaps, giving us the first complete, gap-free, end-to-end (or telomere-to-telomere) sequence of a human X chromosome.
The accomplishment was enabled by a new technique called nanopore sequencing, which enables ultra-long-reads of DNA strands, providing a more complete and sequential assembly.
This is in contrast to previous sequencing techniques, in which only short sections could be read at a time. Previously, geneticists had to piece together these sections like a puzzle.
While they were pretty good at this, the pieces tend to look the same, so it’s very tricky to know if you’re getting it right – not just the right order, but how many repeats there are in the sequence. And, of course, there are minute gaps.
“We’re starting to find that some of these regions where there were gaps in the reference sequence are actually among the richest for variation in human populations, so we’ve been missing a lot of information that could be important to understanding human biology and disease,” said satellite DNA biologist Karen Miga of the University of California Santa Cruz Genomics Institute.
Source: Science Alert
You may be interested
Mystery titanium ball found in Bahamas from spacePanos - Mar 01, 2021
A heavy titanium ball, believed to have been a part of a Russian spacecraft, has been discovered on a beach…
Greek government spokesperson resignsPanos - Mar 01, 2021
The Greek government spokesperson, Christos Tarantilis submitted his resignation in a letter to the Prime Minister, Kyriakos Mitsotakis on Sunday.…
Video shows Turkish President Erdogan supported as he walks down stairsPanos - Mar 01, 2021
A video showing Turkish President Erdogan Turkey being supported as he tries to walk down a flight of steps with…