Functional SNP assessment.
Although the relationship between risk allele and causation is still in its infancy23, some phenotypic traits can possibly be inferred from the genome data (all functional SNPs discussed below are listed in Supplementary Table 14). We only included genotypes with a posterior probability above 99%.
Given the A1 antigen allele plus encoding of the rhesus factor in combination with lack of B antigen and the O antigen frameshift mutation, we conclude that the Saqqaq individual had blood type A+24. Although common in all ethnic groups, this has very high frequencies in populations of the east coast of Siberia down to mid China25. Furthermore, we find a combination of four SNPs at the HERC2-OCA2 locus, which among Asians is strongly associated with brown eyes26. SNPs on chromosomes 2, 5, 15 and X suggest that he probably did not have a European light skin colour27, had dark and thick hair28, 29 (in agreement with the morphological examination (Fig. 1b–d)), and an increased risk of baldness30, 31. The same SNP that is characteristic of hair thickness also suggests that he probably had shovel-graded front teeth—a characteristic trait of Asian and Native American populations32. An AA genotype SNP (forward strand) on chromosome 16 is consistent with the Saqqaq individual having earwax of the dry type that is typical of Asians and Native Americans, rather than the wet earwax type dominant in other ethnic groups33. In addition, the combined influence of 12 SNPs on metabolism and body mass index indicates that the Saqqaq individual was adapted to a cold climate (see Supplementary Information and Supplementary Table 14).
Blood type, eye color, hair thickness, boldness, theth morphology, skin color, ear wax type, Body mass index (BMI) and many more are all determined from an ancient hair remaining.
Eight other human genome sequences have been reported so far; a Yoruba African, four Europeans, a Han Chinese and two Koreans.
The above study was the 9th genome. The interpretation of the results was based on the 8 other references studied before. Lets say there is a 8X depth in the data interpretation since the data was interpreted on 8 other references.
Can you imagine what level of detail, accuracy, in other words “X depth” will be available when there are 1 million individual genomes in the database as a reference ?
George Orwell is not ancient but I believe his imagination is ancient now. Big brother will be much more powerful than he imagined some 100 years ago.