Invitae finds scientific articles by using several complementary methods. The primary method is a natural-language algorithm that automatically searches through hundreds of thousands of scientific articles and only displays literature to the interpreter that likely contains information about the variant. A second method searches publicly available databases, such as ClinVar, to find additional articles. Finally, the interpreter manually reviews each article. During the review process, the interpreter may identify other materials. In our experience, our natural-language algorithm provides significantly more information than relying on manual searches or references available in public databases.
Once we’ve found the literature, the interpreter looks at all of the available evidence and reads through each article to identify specific information that falls into the Sherloc evidence guidelines. The interpreter’s role is only to gather and apply the evidence; the evidence itself is what determines the final classification.