A global reference for human genetic variation.
Level 4 - case-series / case-control
Cross-sectional descriptive genomic reference study (level 4 by design analogy, non-clinical).
PubMed 26432245 · doi:10.1038/nature15393
What was done
Low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping were conducted in 2,504 individuals representing 26 distinct global populations to reconstruct genomes and phase genetic variants into haplotypes.
What was found
The project characterized over 88 million variants, comprising 84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants. This resource captured >99% of SNP variants with a frequency >1% across diverse ancestries.
Why it matters
It establishes a foundational, high-density reference map of common human genetic variation and phased haplotypes to support genome-wide association studies and human population genetics.
Limits
Whole-genome sequencing was conducted at low coverage, limiting the sensitivity for detecting ultra-rare variants and resolving complex structural variations. Clinical outcomes and phenotypes were not evaluated.
Cited by
- supports The human genome contains approximately 20,000 genes and 5 to 7 million variations in the genetic code.