The Human Pangenome Project: History, Findings and Implications

The Human Pangenome Project: Scientists from the international Human Pangenome Reference Consortium have published a new, high-quality collection of reference human genome sequences. The new research can aid in understanding how genetic diversity is related to health and disease. The new diversified Pangenome,comes 20 years after the first draft in 2003.

The HPRC has released a new high-quality collection of reference human genome sequences that includes genome sequences of 47 people, with the the goal of increasing that number to 350 by mid-2024.

This article will give you a better understanding of what the have published and what the Pangenome is all about.

A little history

The phrase was originally used in 2005 by Thomas G. Tettelin and his colleagues at the Institute for Systems Biology in Seattle, Washington, when they looked at the genomes of diverse Escherichia coli strains.

Tettelin and his colleagues proposed that the term be used to refer to the total collection of genetic material in a species. This included both genes and variants that are present in every member of a population as well as those that are present in only a subset of individuals.

The pangenome was far bigger than any single person's genome and could be used to investigate the genetic diversity of a species.

They discovered that the genetic diversity among the strains was quite high. This variety included larger-scale alterations like gene duplication and deletion in addition to single-nucleotide polymorphisms (SNPs), which were only one aspect of it.

The theory has been applied on a wide range of creatures, including bacteria, archaea, fungus, plants, and mammals. Pangenome investigations have revealed a high level of genetic variation within species, which has been utilized to better understand organism evolution, disease dissemination, and the creation of new medications and therapies.

One of the most important applications of pangenome research is in medicine. Researchers can find genes required for pathogen persistence by comparing the pangenomes of different strains of a pathogen. This knowledge could be utilized to create medications that target these genes, eliminating the pathogen while causing no harm to the host.

Recent Findings and Implications

The Human pangenome project or The Human Pangenome Reference Consortium (HPRC) is a project funded by the National Human Genome Research Institute (NHGRI).

The project is meant to sequence and assemble genomes from various people around the globe for scientist and researchers to better understand and represent the genomic landscape of population around the world.

“By using the pangenome reference, we can more accurately identify larger genomic variants called structural variants,” said Mobin Asri, a Ph.D. student at the University of California Santa Cruz and co-first author of the paper. “We are able to find variants that were not identified using previous methods that depend on linear reference sequences."

Pertaining to this the HPRC has released a new high-quality collection of reference human genome sequences that includes genome sequences of 47 people, with the the goal of increasing that number to 350 by mid-2024.

The recent findings of the Human Pangenome Project include:

• The identification of over 100 million new variants in the human genome.
• The discovery of new genes and gene variants that are associated with diseases such as cancer, heart disease, and schizophrenia.
• The development of new tools and methods for studying human genetics and disease.

This discovery has the potential to change the way we study and treat diseases. The discovery of new genes and gene variations linked to cancer, for example, could lead to the creation of new targeted medicines. The project can be very helpful for understanding human genetics and could lead to the development of novel diagnostic tests and treatments for a variety of disorders.