Two weeks ago we posted Perlara’s first preprint to bioRxiv, along with all the raw data on GitHub:

This effort was led entirely by a very talented undergrad named Maria Teresa Chavez, who reached out to Perlara by cold email in the Spring of 2015 looking for an internship. What began as a pilot study turned into a proper project over the course of two summers.

Now comes the really fun part of Open Science: feedback. We’re seeking open peer review in the form of comments on bioRxiv. We’re also looking for collaborators who are interested in expanding this initial dataset of 250 Mendelian diseases to all Mendelian diseases. Finally, we’re thinking about ways to harness cloud labs like Transcriptic to test predictions of the functional effects of mutations in yeast cells.

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