Whole-exome sequencing (WES) and whole-genome sequencing (WGS) can only identify rare Mendelian genetic diseases in up to 50% of cases; our ability to interpret the functional and clinical importance of the genetic variants they identify is limited. Here, Cummings et ...
Read More »Ultrafast RNA-Seq Analysis Tool Could Change How Infectious Diseases Are Diagnosed
SALT LAKE CITY-Scientists at the University of Utah School of Medicine, ARUP Laboratories, and IDbyDNA, Inc., have developed ultra-fast, meta-genomics analysis software called Taxonomer that dramatically improves the accuracy and speed of pathogen detection. In a paper published today in ...
Read More »New Data Demonstrates Veracyte’s RNA-Seq Test Improves Idiopathic Pulmonary Fibrosis Diagnosis
Veracyte, Inc., a molecular diagnostics company pioneering the field of molecular cytology, announced findings from a new study demonstrating the potential for the company’s in-development Envisia classifier to help distinguish idiopathic pulmonary fibrosis (IPF) from other interstitial lung diseases (ILD) ...
Read More »RNA sequencing opens door to accurate, highly specific test for prostate cancer
from Prostate Cancer News Today by Margarida Azevedo Researchers have identified that RNA markers in prostate biopsy samples and in the urine of prostate cancer patients are highly specific biomarkers for prostate cancer. The study, presented at the European Association of ...
Read More »Researchers propose a new way of using big RNA-Seq data for clinical diagnosis
The big omics data are challenging translational bioinformatics in an unprecedented way for its complexities and volumes. How to employ big omics data to achieve a rivalling-clinical, reproducible disease diagnosis from a systems approach is an urgent problem to be ...
Read More »RNA sequencing set to change cancer diagnosis in India
According to Jain, in case of lung Cancer merely 6-9 genes are tested to diagnose, but RNA sequencing tests 25,000 genes, which takes to accurate diagnosis. In India nearly 75,000 new lung Cancer cases are reported each year. With increasing ...
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