Peer-reviewed study compares accuracy and consistency of variant assessments from commercial CDS software to the variant interpretation of 8 laboratories...
More mutations, better annotations, confident classifications HGMD Professional 2022.3 is now available, expanding the world’s largest collection of human inherited disease...
In oncology research, identifying potentially actionable gene alterations and exploiting cancer’s molecular vulnerabilities is becoming increasingly difficult. Due to the...
Many labs struggle with prioritizing clinically- and biologically-relevant variants among the millions of variants detected using NGS. Labs are starting...