There's an iPad App for the Human Genome

June 23, 2011

By Bio-IT World staff  

June 23, 2011 | At long last, the human genome is available on the iPad.  

Researchers from the Center for Biomedical Informatics (CBMi) at The Children’s Hospital of Philadelphia have created a free iPad app called Genome Wowser, which provides a mobile interface to data from the UC Santa Cruz genome browser, one of the three major portals to the reference genome sequence established in 2000.  

“We feel that Genome Wowser provides immediacy to the human genome,” said Peter White, director of CBMi. “Researchers can now access genomic data from anywhere with minimal effort, and they can immediately explore the genome visually by using the intuitive screen touches and gestures that have made the iPad platform so powerful.”  

The app is available from the iTunes App store under the name, “Genome Wowser,” which is a play on the UCSC Genome Browser.  

It features a search box allows users to enter names of genes to search. Users can zoom in or out of a region of interest or scroll along a chromosome, Also included are annotations about each gene’s known or suspected biological functions, as well as identified mutations and variants of the gene. Other data fields include ESTs, SNPs and data from the ENCODE project.  

“With this app, I can hear about an interesting disease gene at a seminar and see its genomic and functional contexts in a few screen touches, including epigenetic and variation profiles, neighboring genes, and other critical associations you can’t determine from a simple web search,” said White. “Then, I can walk over to a colleague and share it with them, all in a few seconds.”  

This is not White’s first dabble with the iTunes store. Last year, his team developed an iPhone app that provides doctors and medical staff with a mobile health app on adverse events called CTCAE (Common Terminology Criteria for Adverse Events). His group is interested in “assisting healthcare staff in accessing the next generation of information technologies.”   

White expects that future versions of Genome Wowser will provide access to genome sequences of more than three dozen other species, including dogs, cats, mice, chimpanzees, elephants, and fruit flies.  

Additional members of White’s Genome Wowser team at CBMi include Kevin Murphy, Michael Italia, Ryan O’Hara, Adam Wenocur, Rory Giszter and Colleen Gaynor.