The Power of RNA in Detecting Gene Fusions for Cancer Diagnostics
Christopher McGee, MSc
RNA profiling provides an effective and accurate method of gene fusion detection for clinical oncology diagnostics
Genes
More Accurate Computational Tool for Long-Read RNA Sequencing
Children's Hospital of Philadelphia
The tool will allow for better diagnosis of rare genetic diseases caused by disrupted RNA
Women with Twice the Risk of Cancer in Both Breasts Identified
Mayo Clinic
Patients who carry certain germline mutations have a twofold increased risk of developing cancer in both breasts
Genetic Diagnosis Helps Guide Care of Childhood Hearing Loss
University of Washington School of Medicine
Treatment of childhood-onset hearing loss can be more precisely tailored with information on specific genetic cause
Study Identifies Cause for Mysterious Cases of Epilepsy
University of California - San Diego
International collaboration uncovers mosaicism as a cause for pediatric seizures
Blood-Based Markers May Reveal Alzheimer Disease before Symptoms
Karolinska Institutet
New study on the inherited form of Alzheimer's indicates GFAP may be a possible biomarker
New Approach Successfully Traces Genomic Variants Back to Genetic Disorders
National Human Genome Research Institute
Study shows genotype-first approach uncovers new links to genetic conditions
Pharmacotyping Provides a Blueprint for “True Precision Medicine”
St. Jude Children’s Research Hospital
Researchers have now comprehensively studied the pharmacogenomics of ALL revealing a wide variability
Structure and Function of Newly Discovered CRISPR Immune System
Utah State University
In tandem papers in Nature, researchers report effects of Cas12a2
New Computer Program Learns to Identify Mosaic Mutations That Cause Disease
University of California - San Diego
An artificial neural network was trained to spot tiny mutations in genetic sequences better and faster than human eyes