| Reference |
1000 Genomes Project Consortium, Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28 467(7319):1061-73. p.1066 table 2PubMed ID20981092
|
| Method |
"[Researchers] estimated that each
genome is heterozygous for 50–100 variants classified by the Human
Gene Mutation Database (HGMD) as causing inherited disorders
(HGMD-DM). Estimates from the different pilot projects were consistent
with each other, taking into consideration differences in power
to detect low-frequency variants, fraction of the accessible genome
and population differences (Table 2), as well as with previous observations
based on personal genome sequences (refs 10,11)...In total, [researchers] found 68,300 non-synonymous SNPs, 34,161 of which
were novel (Table 2)." |