Genome-Wide Mutation-Searching Computational Software Designed for Genomic Medicine

Analysis software cross-references a patient’s symptoms with his genome sequence to help physicians in the diagnosis of disease.

This software was created by a team of scientists from A*STAR’s Genome Institute of Singapore (GIS), led by Dr. Pauline Ng. The research findings were published August 3, 2014, in the journal Nature Methods. Phen-Gen software can identify defective genes responsible for diseases by up to 88%, generating results in 15 to 30 minutes. It has been shown to be faster and more efficient compared to current technology analyzing genomes for this purpose.

One field that Dr. Ng is currently working on is integrating the Phen-Gen technique in the diagnosis of rare diseases. Rare diseases are frequently difficult to diagnose based on symptoms alone. By using Phen-Gen, doctors are able to make a more accurate diagnosis based on a patient’s distinctive genetic code.

Dr. Ng’s team is working with doctors in local and international hospitals to incorporate Phen-Gen to diagnose patients with rare disorders. “We aim to translate scientific research to help people directly,” said senior author Dr. Ng. “To this end, GIS has created a program to help diagnose patients with rare disorders. Phen-Gen works with both exome and whole genome sequencing data. It is the first algorithm to leverage disease symptoms and give genome-wide predictions.”

Most rare diseases, such as those that affect cardiac, neurologic, or brain development, manifest early in life. “There is little else more satisfying than the opportunity to help a sick patient, and through our research at GIS, we want others in the world to benefit as well,” said first author Dr. Asif Javed. “The program is also downloadable online for those who prefer to keep their DNA information private.”

The executive director of the GIS, Prof. Ng Huck Hui, commented, “As we enter the genomics era with more powerful next-generation sequencing technologies that can analyze the human genomes at a reduced cost, data analytics becomes a bottleneck. Dr. Pauline Ng’s group has taken on this exciting challenge to develop analytics capabilities. In partnership with the Singapore hospitals, the GIS has initiated a research project on sequencing patients with undiagnosed conditions or congenital disorders. The Phen-Gen method is timely as it fills an urgent gap in hospitals for accurate diagnosis of rare diseases.”

Related Links:
A*STAR’s Genome Institute of Singapore 
Phen-Gen software