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…
Illumina’s constellation tech a star in Genedx pilot
Genedx LLC partnered with Illumina Inc. to test whether Illumina’s constellation map read technology could shed light on…
Longevity gene from supercentenarians offers hope for disease that causes rapid aging in children
Credit: Pixabay/CC0 Public Domain A new breakthrough in a rare genetic disease which causes children to age rapidly…
Expanding PRRT2 Syndrome: A Case Study
A recent case study has delved into a Chinese family grappling with the complexities of infantile convulsion and…
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…
Bacterial Transporter Hijacked for Genetic Expansion
In a groundbreaking study poised to revolutionize the field of synthetic biology and genetic code expansion, researchers have…
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 technology,…
ACSS1’s Crucial Role in Mammary Development Explored
In an era where genetics and molecular biology converge to illuminate the intricacies of mammalian physiology, the emerging…
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…
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…