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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Scientist-entrepreneur-manager-journalist: -Co-founder, Author; Former Assistant Editor and Director, Biotechin.Asia, Biotech Media Pte. Ltd.; -Founder & CEO, SciGlo (; -Programme Management Officer, SBIC, A*STAR (former Research Fellow). --Sandhya graduated from University of Madras, India (B.Sc Microbiology and M.Sc Biotechnology) and received her Ph.D from the Nanyang Technological University, Singapore. She worked on oxidative stress in skin, skeletal, adipose tissue and cardiac muscle for a decade from 2006-2016. She is currently working as a Programme Management Officer handling projects and grants at Singapore Bioimaging Consortium (SBIC), Agency for Science, Technology and Research (A*STAR). Earlier to this she was a Research Fellow in the Fat Metabolism and Stem Cell Group at SBIC. Sandhya was also the Vice President and Publicity Chair of A*PECSS (A*STAR Post Doc Society) (2014-2016). Recently she founded a platform for scientists - SciGlo ( and is a startup mentor at Vertical VC (Finland). She is an ardent lover of science and enjoys globe trotting and good vegetarian food.