Challenges and Direction in Variant Interpretation

As the volume of DNA sequencing increases, so does the need to accurately and efficiently interpret genetic variants identified using this technology. Variant interpretation remains a challenging aspect of genetic testing due to the significant amount of expertise and time required for this task. Studies have also demonstrated that although detailed guidelines for the interpretation of genetic variants exist, they are often inconsistently implemented between genetic testing labs. This webinar will describe a points-based classification scheme based on the ACMG guidelines. By simplifying the variant interpretation process, our goal is to increase interpretation accuracy and consistency between geneticists. We present new advances in software that increase the efficiency of variant interpretation.