We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
INTEGRA BIOSCIENCES AG

Download Mobile App




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

By LabMedica International staff writers
Posted on 31 Aug 2014
Print article
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



Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
One Step HbA1c Measuring System
GREENCARE A1c
POCT Fluorescent Immunoassay Analyzer
FIA Go
New
Gold Member
TORCH Panel Rapid Test
Rapid TORCH Panel Test

Print article

Channels

Clinical Chemistry

view channel
Image: Reaching speeds up to 6,000 RPM, this centrifuge forms the basis for a new type of inexpensive, POC biomedical test (Photo courtesy of Duke University)

POC Biomedical Test Spins Water Droplet Using Sound Waves for Cancer Detection

Exosomes, tiny cellular bioparticles carrying a specific set of proteins, lipids, and genetic materials, play a crucial role in cell communication and hold promise for non-invasive diagnostics.... Read more

Molecular Diagnostics

view channel
Image: MOF materials efficiently enrich cfDNA and cfRNA in blood through simple operational process (Photo courtesy of Science China Press)

Blood Circulating Nucleic Acid Enrichment Technique Enables Non-Invasive Liver Cancer Diagnosis

The ability to diagnose diseases early can significantly enhance the effectiveness of clinical treatments and improve survival rates. One promising approach for non-invasive early diagnosis is the use... Read more

Hematology

view channel
Image: The low-cost portable device rapidly identifies chemotherapy patients at risk of sepsis (Photo courtesy of 52North Health)

POC Finger-Prick Blood Test Determines Risk of Neutropenic Sepsis in Patients Undergoing Chemotherapy

Neutropenia, a decrease in neutrophils (a type of white blood cell crucial for fighting infections), is a frequent side effect of certain cancer treatments. This condition elevates the risk of infections,... Read more

Pathology

view channel
Image: The OvaCis Rapid Test discriminates benign from malignant epithelial ovarian cysts (Photo courtesy of INEX)

Intra-Operative POC Device Distinguishes Between Benign and Malignant Ovarian Cysts within 15 Minutes

Ovarian cysts represent a significant health issue for women globally, with up to 10% experiencing this condition at some point in their lives. These cysts form when fluid collects within a thin membrane... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.