An In-Depth Analysis of the Human Genome Using the New “Pangenome”

The Human Genome Project, which began in April 2003, contributed to the revolutionization of biomedical research by giving researchers a reference map that allowed them to scan DNA sequences for genetic clues about the causes of a variety of diseases.

Twenty years later, a group of researchers led by Yale researchers developed a new “pangenome” that significantly increases the variety of represented genomes and fills in the sequencing gaps from the initial genome effort.

The accomplishment is discussed in a study published on May 10^th, 2023 in the journal Nature, one of six studies on the pangenome project published concurrently in Nature journals.

The new reference information is much richer and improves our ability to analyze human genomes for the purposes of drug discovery, disease diagnosis, and genome-guided precision medicine.”

Ira Hall, Study Co-Corresponding Author and Professor, Genetics, School of Medicine, Yale University

Hall is also the director of the Yale Center for Genomic Health.

The National Human Genome Research Institute supported the Human Pangenome Reference Consortium to sequence and assemble genomes from individuals from various populations, which is how the research was carried out.

According to the study, using a single reference genome leads to reference biases that impair the quality of genetic analysis, variant discovery, and associations between genes and diseases.

With the exception of Antarctica, the new pangenome has all of the DNA information gathered from 47 individuals representing every continent. In addition to incorporating more varied genetic sequences, it also adds 119 million base pairs, the fundamental units of DNA, to the 3.2 billion base pairs that already existed in the human genome.

Clinicians will be better able to identify potentially harmful mutations inside a patient’s DNA with the pangenome reference’s superior quality and depth of data, the researchers claim.

The researchers assert that as a result of the pangenome reference’s greater quality and depth of data, clinicians will be better equipped to identify potentially hazardous mutations inside a patient’s DNA.

Hall added, “The inclusion of diverse human populations in this project ensures that the medical advances enabled by the pangenome will benefit all ancestry groups in an equitable way.”

The Human Pangenome Reference Consortium eventually wants to include comprehensive genomic information on 350 individuals in its reference database.