The average individual genome: a survey of nearly 1 million whole-genome sequences.

The "average" human genome contains approximately 4.3-5.3 million variants, with about 1.5% being rare, across nearly 1 million sequenced individuals.

• Why it matters: Understanding the extent of genetic variation in the "average" genome is crucial for interpreting clinical and public health genomic findings and for advancing equitable precision medicine.
• What they did: The study analyzed whole-genome sequencing data from 490,541 UK Biobank and 414,830 All of Us participants, assessing variation across six ancestry groups, including SNVs, indels, copy number variants, and de novo mutations.
• The result: Most genomes harbor 1-3 pathogenic or likely pathogenic variants, with about 50 variants of uncertain significance, and the average individual is in the top 10% for three polygenic disease scores, highlighting widespread genetic diversity and its implications.