next-generation human genetics新一代的人类遗传学.pdfVIP

Shendure Genome Biology 2011, 12:408 /2011/12/9/408 E D I TO R I A L Next-generation human genetics Jay Shendure* genetics. Furthermore, even though exome sequencing Abstract only became broadly accessible in late 2009, well over The eld of human genetics is being reshaped by 10,000 exomes have been sequenced to date. Conse- exome and genome sequencing. Several lessons are quently, what has been published thus far is likely to evident from observing the rapid development of this represent only a small fraction of collective body of work area over the past 2 years, and these may be instructive in progress that applies exome sequencing in diverse with respect to what we should expect from ‘next- contexts. generation human genetics’ in the next few years. Today, the cost of whole-genome sequencing has fallen to a few thousand dollars, and exome sequencing is being declared in some quarters to be obsolete at the very In 2005, two publications introduced methods for massively moment when it has seemingly become pervasive. ere parallel DNA sequencing [1,2], marking the beginning of is likely to be some truth to this. As the cost of whole- a dizzying free-fall in sequencing costs that continues genome sequencing is falling to a level where it is broadly today with no obvious end in sight. To enable the flexible access