Human genome project DNA

The Human Genome Project was aimed at mapping all of the genes within the human genome. The project started in 1990, and ended in 2003. Public-sponsored sequencing was conducted by universities and research centres in the US, UK, Japan, France, Germany, Spain and China. Mapping the human genome involved sequencing individuals and then consolidating them to get a complete sequence for each chromosome. 


What is the human genome project?

Sinsheimer led a research briefing at the University of California, to plan the possible sequencing of the human genome, in 1985. The NIH didn’t accept the proposal. A second briefing, the Santa Fe workshop, was subsequently organised by Charles DeLisi and David Smith. Dulbecco also proposed a complete, global genome sequencing. The idea for a reference sequence had three independent origins, partially covered by Sinsheimer, Dulbecco and DeLisi.

Who was involved and what was the cost of the project?

DeLisi outlined a broad plan for the project, which was approved in 1986. US Congress added a significant amount to the original NIH budget. Alvin Trivelpiece obtained the approval of DeLisi’s proposal. A $4m initiation was followed by $16m from the Reagan Administration’s 1987 budget. This was successfully passed.

The DOE and NIH agreed an MOU to coordinate plans of the Project. In 1993, Aristides Patrinos assumed the role of Director of the U.S. National Institutes of Health (NIH) National Centre for Human Genome Research. In addition to the US, the international consortium comprised geneticists in the UK, France, Australia, China and other global partners. The relative cost today would equate to $5bn .

When was the human genome project completed?

The first draft was completed by the Genome Bioinformatics Group at the University of California. Ongoing sequencing led to the announcement of the complete genome in 2003.


Human Genome Project results

In total, 22,300 protein-coding genes are in humans. The human genome has significantly more segmental duplications than expected. At publication date, fewer than 7% of protein families had appeared to be vertebrate specific. The human genome project sequenced only euchromatic regions of the genome, which make up approximately 92.1% total. Heterochromatic, are found in centromeres and telomeres. These were not sequenced. A quality assessment of the sequence was published indicating over 92% of sampling exceeded 99.99% accuracy.

In 2009, the Genome Reference Consortium published an updated version, but that still left more than 300 gaps. In May 2020, the GRC reported 79 incomplete areas. The application of new long-range sequencing techniques and a homosygous cell line in which both copies of each chromosome are identical led to the first telomere-to-telomere.


Ensembl project

Ensembl, a genomics information resource founded between EMBL-EBI and the Wellcome Sanger Institute. Ensembl was created in response to the progress of the Human Genome Project and was originally used to browse the human genome. Today, Ensembl continues to serve thousands of researchers as it allows scientists to search the genomes of thousands of vertebrates, plants, fungi, bacteria, and protists across the Ensembl Genomes websites.


Advantages and benefits of the human genome project

There are tremendous benefits and advantages, from molecular medicine to human evolution. A new understanding of genotyping of viruses, identification of cancerous mutations and advancements in forensic sciences. The sequence of DNA is stored in databases available freely online. The U.S. National Centre for Biotechnology Information stores the gene sequence in GenBank.


Legal and ethical issues with the human genome project

Several ethical issues were raised in regard to how this data could be used to discriminate against individuals. A central fear was that employers and insurance companies would refuse to hire or insure individuals because of certain data highlighted indicated by someone’s genes. In the US they passed the Health Insurance Portability and Accountability Act (HIPAA) which protects against the unauthorised and non-consensual release of individually identifiable information.


Progress and developments

Identification of the genetic variants that lead to the risk for common diseases like cancer, was the next step, providing progressive advances in medicine. For example, Myriad Genetics started offering ways to administer genetic tests that predicted the potential for the onset of critical illnesses, including breast cancer, hemostasis disorders and liver diseases.

By visiting the human genome database, one can examine what other scientists have recorded about this gene, including (potentially) the three-dimensional structure, its functions, possible detrimental mutations and critical interactions with other genes.


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