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.

Date of Patent:
Oct. 13, 2026

Filed:

Jul. 21, 2021
Applicant:

Illumina, Inc., San Diego, CA (US);

Inventors:

Hong Gao, Santa Clara, CA (US);

Kai-How Farh, Santa Clara, CA (US);

Jeremy Francis Mcrae, San Diego, CA (US);

Assignee:

ILLUMINA, INC., San Diego, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G06F 16/28 (2019.01); G06N 3/02 (2006.01); G16B 20/20 (2019.01); G16B 40/20 (2019.01);
U.S. Cl.
CPC ...
G06F 16/285 (2019.01); G06N 3/02 (2013.01); G16B 20/20 (2019.02); G16B 40/20 (2019.02);
Abstract

Derivation and use of pathogenicity scores for gene variants are described herein. Applications, uses, and variations of the pathogenicity scoring process include, but are not limited to, the derivation and use of thresholds to characterize a variant as pathogenic or benign, the estimation of selection effects associated with a gene variant, the estimation of genetic disease prevalence using pathogenicity scores, and the recalibration of methods used to assess pathogenicity scores.


Find Patent Forward Citations

Gao, Hong. (2026). Variant pathogenicity scoring and classification and uses thereof (U.S. Patent No. 12762151). U.S. Patent and Trademark Office. https://idiyas.com/patent/badge/12762151

Data source: USPTO (United States Patent and Trademark Office) public patent records. Weekly synchronization. How IDiyas builds this profile

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