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Genome Analysis Via Mobile App, Web Site in Development

DNA strand (Genome.gov)

(Genome.gov)

A genomics lab at Tel Aviv University in Israel is developing a system making it possible to upload a person’s whole genome and get results analyzed through a mobile app. Tel Aviv graduate students Ofer Isakov and Gershon Celniker in the lab of geneticist Noam Shomron are writing the software that they expect to release to physicians for review later this month.

As the price and time required for whole genome sequencing drop dramatically, Isakov and Celniker aim to make it possible for the growing number of people having their genomes sequenced to access and query their data on demand. The lab posted a Web site — GeneG.org — where individuals can upload their DNA sequence data and perform research-based genetic tests, such as tests for genetic disorders or uncovering genetic traits.

The GeneG system aims to promote more personalized medicine that links an individual’s genetic composition to changes in phenotypes, or observable physical outcomes. Shomron believes making a person’s genomic data more accessible to individuals will encourage clinicians to take more advantage of its availability.

In particular, says Shomron in a university statement, the data can advance pharmacogenomics, the science of optimizing medications for each individual’s unique genetic makeup. Among those advances are the Pharmacogenomics Knowledge Base at Stanford University that already collects gene-drug associations and relationships between genetics and phenotypes.

People who have had their whole genomes sequenced can upload their data to GeneG in a standard Variant Call Format that stores DNA information in compressed files. Open-source bioinformatics tools are being developed separately to parse the files and generate genetics statistics. The Tel Aviv team has a GeneG mobile demonstration app available in Android format, although an iPhone app is also planned.

While the mobile app and Web site will make genomic data more readily available, Shomron underscores the need for physicians and patients to use the data carefully. “It should be used with great caution and with sensible interpretation,” says Shomron.  “Some people might not be ready to see all this information about themselves.”

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