Technology Networks

Long-Read RNA Sequencing Platform Helps Diagnose Rare Diseases

Researchers developed STRIPE, a targeted long-read RNA sequencing tool that identifies disease-causing variants missed by ...
Morning Overview on MSN

Long-read RNA sequencing tool boosts rare-disease diagnoses missed by DNA tests

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

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.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 ...

Self‑replicating circular RNA persists in extreme environments: Insights from hot spring microbiomes

Although the genetic material of most living organisms is DNA, various self-replicating agents rely instead on RNA, including ...
Phys.org

Cheaper sequencing, bigger payoff: New software could bring advanced metagenomics to more labs

Metagenomics relies on the use of software programs called assemblers, which can reconstruct tens of thousands of individual ...
AHA/ASA Journals

Targeting Interleukin-8–Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan Syndrome

BACKGROUND: Genetic variants in components or regulators of the RAS-MAPK signaling pathway are causative for severe and early-onset hypertrophic cardiomyopathy (HCM) in patients with Noonan syndrome ...