Researchers Open Unexplored Regions Of Human Genome Sequence

Jun, 2022 - By SMI

After two decades of the Human Genome Project scientists published the first complete and gapless sequence of human genome

The Human Genome Project started years ago and it famously published its first draft in 2000 and a draft of complete genome in 2003. However, now after two decades an international group of researchers published the first complete, gap-free human genome sequence. The new reference genome is an addition to millions of base pairs to the earlier drafts as it filled some important gaps that will enhance research related to evolution and disease.

With all the technological developments and two decades of extra work researchers successfully sequenced the whole human genome of nearly 3 billion bases without any gaps. The international team of scientists called as Telomere-to-Telomere (T2T) Consortium worked on this study for past two decades. The team named the new reference genome as T2T-CHM13 as they added nearly 2 million base pairs of already known DNA sequences.  Out of these base pairs the team found 99 genes that coded for proteins and nearly 2,000 candidate genes that will be examined closely. The new reference genome reportedly corrected numerous structural errors that were present in the previous versions. Interestingly the 92% of the sequence was easily complete, however, the last 8% percent took longer than the first 92% due to heterochromatic regions being made of large repeating sections, which are hard to connect together precisely.

In this research the scientists used some new equipment for reading longer sequences. The team use Oxford Nanopore DNA sequencing method to examine the genome that can read millions of DNA letters in one read and with highest accuracy. As reported by the scientists, the new human genome is expected to help various studies in the future including the studies of genetic markers for diseases. It could help to study the cancer with better understanding of the genome’s region from where it arises, leading to new treatments.