Exome sequencing (ES) is commonly used to diagnose Mendelian disorders, which occur when pathogenic variant(s) in a gene are either inherited from one or both parents or are de novo. Examples of such ...

Rare diseases collectively affect millions globally yet present unique diagnostic challenges due to their low prevalence and clinical heterogeneity. Genomic technologies have revolutionised rare ...

There are two key things to know about the new Applied Biosystems™ SwiftArrayStudio™ Microarray Analyzer from Thermo Fisher Scientific, said Ravi Gupta, vice president and general manager of Thermo ...