Here's a nice blog-review about studies that discovered variations causing diseases with next-generation sequencing.

In addition to the content, I like the comment of the author that there is no time to write a review paper given the speed of the field development. Obviously what he means (since he has written the material already), is that publishing in a journal has very high overheads for the author(s) that simply slow down communication of information. In this case, I would argue that the comments have served a similar role as peer-review, prompting the author to add links to the papers, adding to the information or modulating the claims of novelty (see comment about RET).

The number of human genetic diseases unraveled by next-generation sequencing skyrocketed this year. Several factors contributed to this growth, two of which were the ever-increasing throughput of sequ…