Massapequa couple seeks cure for daughter with rare genetic mutation
Madeline Norton was diagnosed with a rare genetic mutation, causing her family to change their outlook on life.…
From genotype to phenotype with 1,086 near telomere-to-telomere yeast genomes
Strain culture and DNA extraction We used a collection of S. cerevisiae isolates that were previously sequenced using…
Expanding PRRT2 Syndrome: A Case Study
A recent case study has delved into a Chinese family grappling with the complexities of infantile convulsion and…
Genetic variation and genome-enabled selection of white lupin for key seed quality traits | BMC Genomics
Foyer CH, Lam H-M, Nguyen HT, Siddique KHM, Varshney RK, Colmer TD, et al. Neglecting legumes has compromised…
Bacterial Transporter Hijacked for Genetic Expansion
In a groundbreaking study poised to revolutionize the field of synthetic biology and genetic code expansion, researchers have…
Gene-activity map of developing brain reveals new clues about autism’s sex bias
Male and female human fetuses show distinct patterns of gene activity and DNA regulation in the cerebral cortex,…
Ancient lead exposure may have shaped human evolution and language
A groundbreaking international study changes the view that exposure to the toxic metal lead is largely a post-industrial…
Nabsys Highlights OhmX™ Platform’s Ability to Accurately Verify Structural Variants in Undiagnosed Disorders and Workflow Optimizations at American Society of Human Genetics (ASHG) 2025 Annual Meeting
Newswise — PROVIDENCE, R.I., Oct. 15, 2025 — Nabsys 2.0, LLC (Nabsys), a pioneer in electronic genome mapping…
Researchers Show Benefit Of Ultra-deep RNA Sequencing In Mendelian Disorder Diagnostics
RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this…
Integrating Proteomics with Global Genetic Meta-Analysis
Ankylosing Spondylitis (AS) is a debilitating, immune-mediated disease which causes inflammation of the joints between the vertebrae, leading…
Reporter’s Notebook: The Overdue Breakout for Gene Therapy and Gene Editing
As gene editing enters a new era, leaders discuss Baby KJ’s implications for families, science, and industry. (Left…
Researchers identify genetic markers that affect treatment outcomes in patients with large B-cell lymphoma
MD Anderson Research News October 15, 2025 Multiple genetic markers play a key role in the treatment outcomes…