Recommended by: Christopher O'Donnell, National Heart, Lung, and Blood Institute
There can be a bit of a chasm between dry lab work and wet lab work. But NHLBI's Andrew Johnson aims to close that gap. "A lot of things that I attempt in terms of projects try to bridge those barriers between the dry lab, computational side of things and wet lab experiments that are two different worlds," he says.
Currently, Johnson's work focuses on developing tools. During the early days of genome-wide association studies, he noticed that it was difficult for researchers to compare results generated across various array platforms. In conjunction with scientists at the Broad Institute, he developed a tool called SNAP to do just that. "[It] was pretty successful in terms of allowing people to rapidly query for proxy markers, but also just to do basic annotation of SNPs, like chromosome position, gene, and also to do plotting for regional genetic association plots," he says.
In addition, as was recently presented at the American Society of Human Genetics meeting, Johnson and his colleagues performed a meta-analysis of genome-wide expression profiling studies to uncover signatures associated with age and gender, which they then cross-validated on different platforms and replicated in a separate cohort.
Johnson adds that such an approach "really hasn't been done very much in the gene expression field."
Paper of note
In a 2010 Nature Genetics paper, Johnson and his colleagues reported on a GWAS testing the association between 2.5 million SNPs and platelet aggregation. It found, Johnson notes, several known pharmacogenetic candidates as well as some novel ones.
In a separate paper from 2009 published in BMC Medical Genetics, Johnson and O'Donnell presented an open-access database of results they collected from nearly 120 GWAS studies. Upon publication, the database included more than 56,400 SNP-phenotype associations.
Looking ahead
While Johnson says that the field will likely see, as technologies improve, an integration of multiple levels of biological information from the DNA to RNA to protein levels, he also says that it would benefit from a return to its reductionist roots. "A lot of times when you look at those candidate lists and some of them are quite obvious that come out of GWAS, but some of them you kind of scratch your head," he says, adding that "there is a lot of work to do."
And the Nobel goes to…
If he were to win the Nobel Prize, Johnson says the most likely scenario, though he calls the prospect unlikely, would be if he "made a major contribution to a genomic finding that leads to a new treatment."