Phen-Gen: New software developed by Singapore scientists to detect genome-wide mutations

Singapore scientists have developed exciting software that can cross-reference a patient’s symptoms and their genome sequence, to better aid doctors in diagnosing diseases. Phen-Gen detects faulty genes responsible for diseases by up to 88 %, yielding results in 15 to 30 minutes. It is faster and more efficient than current methods which analyze genomes for this purpose. This software was created by a team of scientists led by Dr. Pauline Ng at A*STAR’s Genome Institute of Singapore (GIS). Results from the results were published in the prestigious journal Nature Methods. The group is further working on developing Phen-Gen in diagnosis of rare diseases. By using Phen-Gen, an accurate diagnosis can be made by doctors based on an individual’s unique genetic makeup. Phen-Gen can be accessed on


The above story is based on materials provided by A*Star Agency for Science, Technology and Research.

Full details of the discovery can be accessed online at

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