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 ...

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 ...