The Human Pangenome Project: History, Findings and Implications

The Human Pangenome Project: Scientists from the International Human Pangenome Reference Consortium have published a new collection of high-quality human genome reference sequences. The new research may help understand how genetic diversity is related to health and disease. The new diversified Pangenome arrives 20 years after the first draft in 2003.

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

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

A little story

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 various strains of Escherichia coli.

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

The pangenome was much larger than the genome of any person and could be used to investigate the genetic diversity of a species.

They found that the genetic diversity among the strains was quite high. This range included larger-scale alterations, such as gene duplication and deletion, as well as single nucleotide polymorphisms (SNPs), which were just one aspect of it.

The theory has been applied to a wide range of creatures, including bacteria, archaea, fungi, plants and mammals. Pangenome research has revealed a high level of genetic variation within species, which has been used to better understand the evolution of organisms, the spread of diseases, and the creation of new drugs and therapies.

One of the most important applications of pangenome research is medicine. Researchers can find genes necessary for pathogen persistence by comparing the pangenomes of different strains of a pathogen. This knowledge could be used to create drugs that target these genes, eliminating the pathogen without causing harm to the host.

Recent findings and implications

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

The project aims to sequence and assemble genomes from various people around the world so that scientists and researchers better understand and represent the genomic landscape of the population around the world.

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

In this regard, the HPRC has published a new high-quality collection of human reference genome sequences that includes genome sequences from 47 people, with the aim of increasing that number to 350 by mid-2024.

Recent findings from the Human Pangenome Project include:

  • The identification of more than 100 million new variants in the human genome.
  • The discovery of new genes and genetic variants that are associated with diseases such as cancer, heart disease and schizophrenia.
  • The development of new tools and methods to study genetics and human diseases.

This discovery has the potential to change the way we study and treat diseases. The discovery of new genes and genetic variations related to cancer, for example, could lead to the creation of new targeted drugs. The project could be very useful in understanding human genetics and could lead to the development of new diagnostic tests and treatments for a variety of disorders.

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