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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.:

US 11861491 B1

PDFFull Text
Date of Patent:
Jan. 02, 2024

Filed:

Sep. 20, 2019

Deep learning-based pathogenicity classifier for promoter single nucleotide variants (psnvs)

Applicant:

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

Inventors:

Sofia Kyriazopoulou Panagiotopoulou, Redwood City, CA (US);

Kai-How Farh, San Mateo, CA (US);

Assignee:

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

Attorney:

Keller Preece PLLC

Primary Examiner:

Jay M Patel

Int. Cl.
CPC ...
G16B 40/00 (2019.01); G06N 3/08 (2023.01); G06N 20/20 (2019.01); G06N 3/084 (2023.01); G06N 3/082 (2023.01); G06N 3/044 (2023.01); G06N 3/045 (2023.01);
U.S. Cl.
CPC ...
G06N 3/08 (2013.01); G06N 3/082 (2013.01); G06N 3/084 (2013.01); G06N 20/20 (2019.01); G16B 40/00 (2019.02); G06N 3/044 (2023.01); G06N 3/045 (2023.01);
Abstract

We disclose computational models that alleviate the effects of human ascertainment biases in curated pathogenic non-coding variant databases by generating pathogenicity scores for variants occurring in the promoter regions (referred to herein as promoter single nucleotide variants (pSNVs)). We train deep learning networks (referred to herein as pathogenicity classifiers) using a semi-supervised approach to discriminate between a set of labeled benign variants and an unlabeled set of variants that were matched to remove biases.

Find Patent Forward Citations

Kyriazopoulou Panagiotopoulou, Sofia. (2024). Deep learning-based pathogenicity classifier for promoter single nucleotide variants (psnvs) (U.S. Patent No. 11861491). U.S. Patent and Trademark Office. https://idiyas.com/patent/badge/11861491

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