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Meet a Professional Genome Wrangler

Esther Schindler (16185) writes | about a year ago


Esther Schindler (16185) writes "Computers have played a part in the pursuit of science for most of their history. Humanity would not have made it to the moon without a myriad of computers controlling every aspect of the space flight, and computers are crucial in modern statistical analysis of data. But bioinformatics, and specifically genomics (the study of the human genome, and how it influences traits and diseases), are even more critically dependent on the use of computers, for a number of reasons. In Meet a Professional Genome Wrangler: Madeleine Ball Keeps DNA Straight at Harvard’s Personal Genome Project, James Turner interviews Ball to discover what's involved in the process — geeky details and all.

If one genome is big, 100,000 genomes is overwhelmingly huge, and it’s Dr. Madeleine Ball’s job to keep all the data happy. Ball oversees data collection and the public data portals for the PGP, as their Director of Biology. This can be as awesomely geeky as tweaking python scripts to analyze data, or as mundane as packaging blood samples so they can be sent off to be biobanked.

To me, the most interesting stuff is in regard to data formats that only sound like standards.

One of Ball’s largest challenges is the lack of uniformity in personal health records (PHRs). The PGP program participants (who currently number in the low thousands) are very active, uploading all sorts of personal data such as PHRs, X-Rays, and MRI scans. Unfortunately, getting all that information into a consistent format is daunting. “Everyone has their own way of doing a health record,” says Ball, “And they all say, ‘Oh, we have electronic health records,’ as if it solves everything. That’s kind of like saying, ‘We all have Word documents;’ it doesn’t mean they’re all using the same coding systems.”

See what you think."
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