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. 02, 2024
Filed:
Sep. 20, 2019
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:
Primary Examiner:
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.