Extended Data Table 1 Per population sample count of autosomal SNVs at VQSR = 99.8 before (top) and after (bottom) ancestry masking

From: Indigenous Australian genomes show deep structure and rich novel variation

  1. &Removing all 219 samples leaves zero samples.
  2. *High coverage 1000 Genomes from Byrska-Bishop et al., 2022.
  3. **1000 G and HGDP from the gnomAD v3.1.2 HGDP + 1KG subset.
  4. #gnomAD 3.1.2 (n = 76,156 genome, includes HC 1000 Genomes (n = 2,435) and HGDP (n = 780)).
  5. ##AF > 0.0001 equates a minimum minor allele count (AC) in gnomAD of 16 assuming a total allele count (AN) of 152,321.
  6. ^Previously unobserved variation based on these samples.
  7. ^^Novel Singletons.