Can Single Nucleotide Polymorphisms Beat Schnüffel?

摘要

A mere 20 years ago, President Clinton announced that the human genome had been sequenced. At that time, we had 2 genomes. One belonged to a variety of humans, the other to Craig Venter. In any event, the cost of a human genome was quoted at about 1 bil- lion dollars, far beyond the reach of even the richest oli- garchs. Moore law (he could have afforded a genome) predicted that the number of transistors in an integrated circuit doubles every 2 years, and as a result, the cost of computing power plummets accordingly. True to form, the decreasing cost of sequencing paralleled Moore law amazingly well until about 2007. At that time, technologi- cal developments entered a different orbit. In addition, the data quality instead of suffering, improved dramati- cally. For the next decade, the sequencing costs plum- meted so that in 2020, a whole genome can be had for as little as $1000. This cost overdramatizes a bit since other expenses, including interpretation and application, then come into play. Suffice it to say, this astounding state-of-affairs will have a dramatic impact on our lives, even if little appreciated by the lay public or the media. Thus, an oligarch who would have spent a fortune on an oceangoing yacht in 2000 can now purchase one for 10 dollars, a million-fold reduction in costs.