Nobel efforts
Svante Pääbo, a Swedish scientist, has won the Nobel Prize for his reconstruction of a full genome for Neanderthals and other extinct hominins. Pääbo's prize, officially the Nobel Prize in Physiology or Medicine, carried a 10m Swedish Kronor prize (~$920k USD) and was the first of six awards that are being announced this week. The impressive work, which saw Pääbo pioneer methods to extract and analyze DNA from Neanderthal bones, is experimentation that will hopefully get easier over time, as the cost of genome sequencing continues to fall.
Indeed, Illumina — a company which has some 80% share of the global gene sequencing market — unveiled two new sequencing instruments this week. The company claims these tools will bring the cost of sequencing a full genome to less than $240 and give the company capacity to sequence ~20,000 genomes a year, up from 7,500. Tell those numbers to a scientist from the year 2000, when one human genome sequence would cost close to $100m, and they'd likely laugh you out of the lab.
The whole gene
What about that at-home DNA test kit you bought online? That only takes a snippet, usually around 0.02% of your DNA, using clues to predict your disease risks and ancestry.
Whole-genome sequencing, on the other hand, provides 4,000 times more data on your DNA than at-home tests, and is likely to lend a hand in major medical breakthroughs. The process helped the speedy creation of vaccines for Covid-19, can help the early detection of disease outbreaks, identify inherited disorders and even characterize genetic cell mutations in cancer patients.
