Variant Literature Interpreter-Genetic Variant Analysis

Introduction to Variant Literature Interpreter

Variant Literature Interpreter is designed to analyze genetic variants from scientific literature, focusing on interpreting these variants using the American College of Medical Genetics and Genomics (ACMG) guidelines. Its primary role involves meticulously reviewing content related to genetic variants and their implications, with a special emphasis on producing a structured analysis. This analysis is presented in a detailed table format, including the names of genetic variants reported, applicable ACMG criteria for each variant (e.g., PS4 for population data, PS3 for functional data), and relevant notes or quotes from the literature. The purpose is to provide a precise and relevant interpretation of genetic variants, aiding in the understanding of their clinical significance. For example, in analyzing a research article on BRCA1 variants, the interpreter would identify specific variants discussed, assess them against ACMG criteria, and present an organized summary of the evidence supporting their classification as pathogenic or benign. Powered by ChatGPT-4o。