The Human Genome Project was an international collaboration led by the International Human Genome Sequencing Consortium (IHGSC), with the aim of producing a sequence of the human genome. This was completed with high-throughput Sanger sequencing technology, producing a sequence of the coding regions in 2003. Although this project only sequenced a small proportion of the entire human genome, it led to a rapid decline in the cost of sequencing, and improvements in the technology available.
Later, in 2021, the telomere-to-telomere project completed on the aims of the HGP, producing a complete genome sequence using PacBio and Nanopore sequencing technologies. These technological advances made it possible to sequence the highly repetitive regions of DNA, which are prevalent in the human genome, to produce a continuous sequence.
The encyclopaedia of DNA elements (ENCODE) project, another ‘big science’ research project, built on the work of the HGP, attempting to identify non-coding elements of the human genome. This used many different techniques, including ChIP-seq, FAIRE-seq, rip-seq, and others to identify interactions within DNA and between DNA and proteins. This led to the discovery that many non-coding regions of the DNA had functions not previously understood. This improved understanding and caused discourse amongst scientists. Now, the findings of ENCODE are widely accepted.
