This technology is a software program for the clinical interpretation of human disease sequence variants using the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) 2015 guidelines.
Advances in next-generation sequencing (NGS) technology have led to the rapid adoption of NGS in genetic testing and in human genetics research. While it is becoming increasingly affordable for individual laboratories to generate NGS data, the interpretation of genotype-phenotype relationships is the major hurdle in utilizing these data. The interpretation of NGS data currently requires processing by individual clinical interpreters who often have different understanding of clinical guidelines, leading to a lack of consistency in data interpretation. As such, there is a need for a computational tool that employs standardized algorithms for semi-automated interpretation of NGS data using established clinical guidelines.
This technology is a software tool that automatically interprets NGS data to aid in the assignment of clinical significance to genetic variants. This technology accepts a pre-annotated file or VCF file as input and then generates an automatic interpretation of the clinical significance based on 18 criteria from the ACMG/AMP 2015 guidelines. Furthermore, this technology may be paired with a companion web server, wInterVar, to enable user-friendly variants interpretation with an automated interpretation step and a manual adjustment step. As such, this technology could help predict and diagnose severe congenital and early onset developmental disorders with improved speed and reliability.
This technology has been benchmarked using data from published sequencing studies, delivering a significant reduction in the time it takes to interpret clinical significance of genetic variants.
IR CU17138
Licensing Contact: Joan Martinez