The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jan. 07, 2025
Filed:
Oct. 31, 2023
Laboratory Corporation of America Holdings, Burlington, NC (US);
Toby Manders, San Francisco, CA (US);
Keith Nykamp, Berkeley, CA (US);
Alexandre Colavin, San Diego, CA (US);
Yuya Kobayashi, Menlo Park, CA (US);
Laboratory Corporation of America Holdings, Burlington, NC (US);
Abstract
Embodiments of the disclosed technologies apply a logistic regression model to a set of population data for a set of genes. The set of population data includes a set of features for a variant located at a position within a gene. The set of features includes at least one population frequency meta-feature. The at least one population frequency meta-feature quantifies predictive value of allele frequency in the gene. Using the first set of population data, a variant classification prediction output by the logistic regression model is evaluated based on an expected variant classification. The logistic regression model is adjusted until at least one first performance criterion is satisfied to produce a trained logistic regression model. The trained logistic regression model is capable of outputting variant pathogenicity estimates that satisfy at least one second performance criterion.