Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn screening (NBS) programs have traditionally relied on ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn ...

Next-generation sequencing (NGS) has transformed genomic research and clinical diagnostics by enabling rapid, high-throughput analysis of genetic material. The application of NGS to formalin-fixed ...

A recent study on the application of Metagenomic next-generation sequencing (mNGS) found that mNGS can achieve early detection of pathogens and accelerate the development of targeted anti-infection ...

Life sciences and diagnostics company Revvity has had a busy couple of years, playing a major role in the next-generation sequencing-based screening of newborns to better enable healthcare ...

Quest Diagnostics (NYSE: DGX), a leading provider of diagnostic information services, today announced the launch of a novel ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Next-generation DNA sequencing (NGS)—the engine behind personalized medicine, cancer diagnostics, infectious disease tracking, and cutting-edge genetic research—is increasingly at risk of cyberattacks ...

Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...

Located on the Buffalo Niagara Medical Campus and the first next-generation sequencing service provider in the region, UB's Genomics and Bioinformatics Core Facility provides high-quality services ...