With millions of human genetic variants cited in over 30 million articles, comprehensively searching the medical research for a variant can be like finding a needle in a haystack. This is especially important when a single paper can mean the difference between a variant of uncertain significance (VUS) and a pathogenic variant.
2018 has been another banner year in the progression of Precision Medicine! Year over year, there has been a dramatic rise in the number of scientific studies and initiatives that resulted in meaningful published findings, and 2018 was another record-breaker. To demonstrate trends in genetics and genomics research seen through the lens of scientific publications, …
As a parent, sometimes the most powerful answer you can give your children is “no”. Once they know where the boundaries are, they just might stop trying to navigate the gray area to find loopholes. The same can be said for genomic variant curation.
Artificial Intelligence, or AI, has become the official buzzword of the healthcare industry in recent years, inspiring billions of dollars in investment. When the lives and well-being of patients hang in the balance, do the benefits of using AI outweigh the risks?
We are constantly working to improve Mastermind to provide the most comprehensive and powerful tool for evidence-based genomic interpretation, and we have just released a major upgrade to the variant panel. This new functionality will ensure maximal search sensitivity while offering precise specificity via filtering.
Powerful new machine learning algorithms for variant indexing deliver improved specificity for the Mastermind Genomic Search Engine.