The Spring release of HGMD Professional is now available. Containing over 314,707 expert-curated disease-causing mutations, HGMD remains the largest, most...
Whole-exome sequencing (WES) using next-generation sequencing (NGS) technology is a powerful tool for investigating variants linked to genetic disease. It...
Next-generation sequencing (NGS) techniques allow high-throughput detection of a vast amount of genetic variations in a cost-effective manner. However, there...