"Human Genome" by Webridge / CC BY 2.0

For The First Time, Scientists Have Completely Sequenced a Human Chromosome

Jul 14, 2020

By Michelle Starr

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.

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