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Following variant and genotype QC, we aimed to assess the range of neutral and disease-associated variation across six genetically-inferred ancestry groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The \u201caverage\u201d genome contains ~4.3\u20135.3 million variants, of which ~1.5% are rare (within-cohort allele frequency\u2009&lt;\u20091%). This includes ~67 autosomal deletions\/duplications\u2009&gt;\u200910,000 basepairs per genome, and rare autosomal copy number variants\u2009&gt;\u20091 Mb present in\u2009~\u20091 in 41 (2.5%) individuals. On average, ~32\u201342% of variants per person are homozygous and individuals have ~4 unique runs of homozygosity\u2009&gt;\u20091.5 Mb, with marked variation observed across ancestry groups. Of the ~21\u2013 26,000 SNVs\/indels per person in coding exons of MANE Select transcripts, ~48% are predicted to alter the protein, of which ~0.8% are high-confidence loss-of-function and ~0.1% have REVEL score\u2009&gt;\u20090.7 suggestive of pathogenicity. Depending upon parental age, the average genome contains ~63\n                      <jats:italic>de novo<\/jats:italic>\n                      variants, of which ~75\u201380% are paternal in origin. Considering only rare variants in GenCC-curated monogenic disease-associated genes, the average genome contains ~1\u20133 ClinVar pathogenic or likely pathogenic variants, ~2\u20135 high-confidence loss-of-function variants, and ~50 ClinVar variants of uncertain significance. Most ClinVar pathogenic variants are heterozygous in recessive disease genes, consistent with carrier status, and have multiple ClinVar submitters. Finally, applying polygenic scores (PGS) for 28 common diseases within UKB, we estimate that the average person is in the top 10% for ~3 conditions, and around 1 in 5 people are in the top 1% for at least one PGS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The ubiquity of genetic variation in individuals has important implications for policy-makers considering genomic screening and clinicians counselling families. The continued underrepresentation of many global populations reflects a broader limitation of contemporary genomic research, underscoring the need for more inclusive datasets worldwide in order to enable equitable precision medicine.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13073-026-01792-x","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T22:06:14Z","timestamp":1792620374000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The average individual genome: a survey of nearly 1 million whole-genome sequences"],"prefix":"10.1186","volume":"18","author":[{"given":"Harrison I. 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