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Pangenome

Pangenome

updated: December 22, 2024

Definition

A pangenome is a collection of genome sequences from many individuals of the same species. Scientists generate pangenomes to capture the breadth of genomic variation across populations and use it as a “reference” to compare other genomes to. Researchers can detect genomic variants by comparing a new individual’s genome to a reference genome

 Pangenome


Narration

When the Human Genome Project generated the first human genome sequence, which most of that sequence coming from a single person, the sequence became the first reference sequence. Researchers have been using this reference sequence for comparing genomes and looking for important differences that might give us clues about our health and risk for diseases. But because humans are so diverse, a single genome sequence doesn’t represent the genomic variation that exists across human populations, which has led to researchers not being able to detect some variants. Researchers have recently created a first draft of a human pangenome that helps overcome this limitation and can help them understand genomic variants from people all over the world.

Alexander Arguello
Alexander Arguello, Ph.D.

Program Director

Division of Genome Sciences