Researchers developed STRIPE, a targeted long-read RNA sequencing tool that identifies disease-causing variants missed by standard tests, improving diagnosis and enabling precision therapies for rare ...
Gene amplifications and deletions frequently have pathogenetic roles in cancer. 30,000 radiation-hybrid mapped cDNAs provide a genomic resource to map these lesions with high resolution. We developed ...
We have generated transgenic mice carrying targeted deletions of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene. These animals offer the unique opportunity to gain insights into ...
The work demonstrates the power of ancient DNA to illuminate human biology and medicine in addition to history. A massive ...
An interdisciplinary research team led by Dr. Elisha Krieg at the Leibniz Institute of Polymer Research Dresden (IPF) has ...
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 ...