AI model popEVE: Prioritizing genetic variants effectively
By combining deep evolutionary signals with human population data, the popEVE model provides a novel approach to identifying…
Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms
Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of…
GLP-1 goliath updates demand for top weight loss drug
Novo Nordisk reported Q3 2025 earnings on November 5, showing continued strong demand for its weight-loss drug Wegovy,…
Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report | Journal of Medical Case Reports
We present a clinical case involving a 3-month-old female infant of Tanzanian origin who was admitted to our…
A Rogue Gene Explains Mysterious Cases of Diabetes and Epilepsy in Newborns
Credit: Wikimedia Commons When six infants around the world were diagnosed with an odd trio of symptoms (diabetes,…
Baylor Genetics Presents New Data on Clinical and Diagnostic Utility of RNA Sequencing for Rare Disease at the American Society of Human Genetics 2025 Annual Meeting
Baylor Genetics Research underscores clinical utility of RNA sequencing in providing critical insights to drive diagnoses and medical…
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
Baylor Genetics Presents New Data on Clinical and
HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
Baylor Genetics to Showcase Clinical and Diagnostic Utility
HOUSTON, Oct. 08, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
One-size-fits-(nearly)-all fix for V2R mutations
Genetic/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction…
Correlation Between Diabetes and Risk of Uveitis Confirmed in Recent Study
Darren Jindal, PhD | Image Credit: Case Western Reserve University School of Medicine Patients with type 1 or…