The first human pangenome is expected to better reflect human genetic diversity

New Delhi: Researchers have published the first draft of the human pangenome — a new, usable reference for genomics that combines the genetic material of 47 individuals from diverse ancestral backgrounds, allowing for a deeper, more precise understanding of global genetic diversity.

The pangenome was created by the government-funded Human Pangenome Reference Consortium (HPRC), launched in 2019, among a dozen research institutions in the United States and Europe.

By adding 119 million bases — „letters” in DNA sequences — to the existing genetic reference, Pangenome captures human genetic diversity impossible with a single reference genome.

Rockefeller University researchers in the US involved in the project called the single reference gene a „flawed tool”.

One of its biggest problems is that about 70 percent of its data came from a man of mostly African-European background whose DNA was sequenced during the Human Genome Project, the first attempt to capture all of a person’s DNA.

As a result, it can tell us little about the 0.2 to one percent of genetic sequence that differentiates each of the planet’s seven billion people from one another, creating an inherent bias in biomedical data that is believed to be due. Some of the health disparities affecting patients today.

Researchers from University of California Santa Cruz (UCSC), US, as part of the collaboration, said the reference is nearly 20 years old and fundamentally limited because it cannot represent the wealth of genetic variation that exists in human populations.

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