Genome Sequencing Solves Rare Disease Mysteries

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...
News-Medical.Net

New RNA sequencing method improves rare disease diagnosis

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...
News Medical

Whole genome sequencing reveals how much human heritability we can finally explain

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...
The Scientist

The Long Road to Complete the Human Genome Project

Explore the decades-long journey to map the full human genome, from early breakthroughs to the first complete, gapless DNA ...
Fast Company

Here’s why genomic sequencing should be a standard of care

For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to ...
EurekAlert!

Children’s Hospital of Philadelphia researchers develop new RNA sequencing platform for diagnosing rare diseases

Researchers developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases. The study team demonstrated that this ...
Regulatory Affairs Professionals Society

FDA drafts guidance on using next-generation sequencing to assess gene therapy safety

The US Food and Drug Administration (FDA) has released draft guidance on how sponsors can utilize next-generation sequencing ...
Michigan Technological University

Michigan Tech’s Genomic Sequencing Lab Helps Researchers Understand What Makes Us Tick

Michigan Tech's Genomic Sequencing Lab, part of the University's Health Research Institute, plays a leading role in tracking animal-borne illnesses in the Upper Peninsula region while also advancing ...