Skip to main content

The Dots Come Closer

Electronic medical records are enabling researchers to connect the dots between genes and disease. A paper appearing in Nature Biotechnology from researchers at Vanderbilt University School of Medicine and elsewhere shows that such records can be used to replicate findings from genome-wide association studies — they replicated 51 of the 77 prior associations they examined — and uncover novel associations.

To do this, the researchers took what a phenome-wide association study, or PheWAS, approach. As Carl Zimmer writes in the New York Times, this scheme works by "by turning genome-wide associations on their head." Instead of starting with a condition and looking for a common gene variant, the Vanderbilt-led team started with gene variants and went looking for conditions.

Drawing upon data from the eMERGE Network, the researchers looked for associations between some 3,150 SNPs and 1,360 phenotypes — such as hypertension, obesity, atrial fibrillation, and more — in more than 13,800 people of European descent. They also uncovered more than 60 new links between genes and disease, including an association between IRF4 rs12203592, which has previously been tied to hair and eye color, to actinic keratosis.

"It's a phenomenal proof of concept," Robert Green from Harvard Medical School tells Zimmer.

The Scan

Pfizer-BioNTech Seek Full Vaccine Approval

According to the New York Times, Pfizer and BioNTech are seeking full US Food and Drug Administration approval for their SARS-CoV-2 vaccine.

Viral Integration Study Critiqued

Science writes that a paper reporting that SARS-CoV-2 can occasionally integrate into the host genome is drawing criticism.

Giraffe Species Debate

The Scientist reports that a new analysis aiming to end the discussion of how many giraffe species there are has only continued it.

Science Papers Examine Factors Shaping SARS-CoV-2 Spread, Give Insight Into Bacterial Evolution

In Science this week: genomic analysis points to role of human behavior in SARS-CoV-2 spread, and more.