Scientists Decode Complete Sequence of Human Chromosome X for the First Time

Nature reports a complete sequence of the human chromosome for the first time at an unprecedented level of accuracy. The report shows a telomere-to-telomere (end-to-end) assembly of a human X chromosome, which fills up the gaps and supplements the current reference genome known as Genome Reference Consortium build 38 (GRCh38).

The research team achieved this breakthrough by high-coverage, ultra-long-read nanopore sequencing of the complete hydatidiform mole CHM13 genome, together with complementary technologies for quality improvement and validation. They focused on the human X chromosome and constructed the ~3.1 megabase centromeric satellite DNA array and closed all 29 remaining gaps in the current reference, including a new sequence from the human pseudoautosomal regions and cancer-testis ampliconic gene families.

With the complete sequence of the human chromosome, the researchers are confident that completing the human genome sequence is achievable.

Read more details in Nature and Cosmic.