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 ...

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

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

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 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 ...

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 ...

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 ...