ELECTRONIC VARIANT CLASSIFICATION

Smart overview of the Invention

A method for classifying genetic variants has been developed, leveraging computer systems to analyze genetic data from individuals who have undergone genetic sequencing. This process involves evaluating the stored electronic data representing genetic sequences to identify potential deleterious mutations within specific genes. The method aims to generate probability data that reflects the likelihood of individuals and their relatives carrying harmful genetic mutations.

Probability Data Generation

For each individual in the patient population, the system generates probability or weighting data based on their genetic information. This data indicates the likelihood of a person carrying a harmful mutation in a specific gene. Additionally, the method accounts for relatives of these individuals, providing a more comprehensive understanding of hereditary risks associated with certain genetic variants.

Scoring System for Genetic Variants

The classification system assigns a score to each genetic variant, which is derived from the probability or weighting data of both the individual and their relatives. This score represents a composite probability that indicates whether a particular variant is likely to be benign or deleterious. By analyzing large datasets, the system can effectively categorize variants into more informative classifications than traditional methods.

Comparison with Control Groups

The method includes comparing individual scores against those from matched control groups consisting of patients with known benign or deleterious variants. This comparison helps ascertain whether a specific genetic variant is more likely to be harmful or harmless. By utilizing composite control sets, the system enhances the accuracy of variant classification and provides valuable insights for clinicians.

Reclassification and Clinical Implications

Ultimately, the probabilities generated through this method can lead to explicit or implicit reclassification of genetic variants. Variants previously categorized as uncertain may be reassessed as either potentially harmful or benign based on statistical analysis. This reclassification can significantly impact patient management, allowing healthcare providers to tailor treatment plans according to a more accurate understanding of an individual's genetic risks.