Culling Contacts from DNA’s Calling Records

June 2, 2015
Culling Contacts from DNA’s Calling Records
Many more promoter interactions (purple arcs) are captured by the Capture Hi-C method (second track) versus the regular Hi-C method (first track). The interactions from a single promoter (third track) reach numerous other DNA segments, some that are more than one million base pairs apart on the linear sequence.

Sift through metadata. Track contact activity. Identify suspicious patterns. This to-do list sounds as though it were devised by the National Security Agency. But it actually describes a research plan enacted by a group of genomic scientists in Japan and the United Kingdom.

The scientists sifted through a catalogue of gene-promoter interactions, tracked promoters associated with known mutations, and identified potential “bad actors.” In this case, the suspects had nothing to do with threats to national security. Instead, they were thought to instigate disease processes, specifically, inflammatory bowel disorders such as Crohn’s disease.

The scientists used technology that advances genomic surveillance as dramatically as computer networking has advanced intelligence operations, which long ago progressed from the selective planting of “bugs” and phone line “taps.” In fact, the scientists themselves likened their work to the collection and analysis of telephony metadata.

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