New Mayo Clinic Technology Helps Solve the Unsolvable in Rare Disease Diagnoses
Mayo Clinic
While manual reanalysis takes weeks, the new technology took from 10 seconds to 1.5 hours to reanalyze each unresolved case
Genetic Sequencers
Research and the Future of Clinical Diagnostics
Andrew Gane, Laura Prescott, MS
An inside look at the next few years of clinical diagnostics
Genetic Sequencing Could Augment Newborn Screening
BGI Genomics
Approximately 1 in 500 newborns benefited from gene panel sequencing integration into first-tier screening tests
Testing for Noncoding RNA Improves Cancer Detection
University of California - Santa Cruz
A novel liquid biopsy technology leverages cell-free RNA “dark matter” to enhance cancer diagnosis
TEQUILA-seq Solves Long-Read RNA Sequencing Woes
Children's Hospital of Philadelphia
Easy-to-implement technology reduces the per-reaction cost of target capture by two to three orders of magnitude as compared to commercial solutions
New AI RNA Sequencing Tool May Simplify Gene Discovery
Agency for Science, Technology and Research (A*STAR)
The long-read sequencing tool accurately identifies and quantifies new, relevant transcripts in any genome
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
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
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
How Can Expanded Carrier Screening Help Families?
Thermo Fisher Scientific
Download this eBook to learn about the role of expanded carrier screening (ECS) in today's clinical decision-making for reproductive health