1000 Genomes Project

The 1000 Genomes Project was an international effort to build a detailed catalog of human genetic variation by sequencing the genomes of thousands of people from many populations around the world. If a single reference genome is one example sentence, this project aimed to record how that sentence actually varies from person to person.

Running from 2008 to 2015, it ultimately sequenced more than two thousand individuals across diverse populations and released the data openly. The result was a public map of common and rarer variants — single-base changes, insertions, deletions, and structural differences — along with the haplotypes on which they travel.

This catalog became a foundational resource for the field. Researchers use it to judge whether a variant found in a patient is common and likely harmless or rare and possibly important, and to power association studies. Its main limitation was coverage of human diversity: some populations were underrepresented, a gap that later, larger and more inclusive projects have worked to close.