Invention Grant
- Patent Title: Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs)
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Application No.: US16578210Application Date: 2019-09-20
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Publication No.: US11861491B2Publication Date: 2024-01-02
- Inventor: Sofia Kyriazopoulou Panagiotopoulou , Kai-How Farh
- Applicant: Illumina, Inc.
- Applicant Address: US CA San Diego
- Assignee: Illumina, Inc.
- Current Assignee: Illumina, Inc.
- Current Assignee Address: US CA San Diego
- Agency: Keller Preece PLLC
- Main IPC: G16B40/00
- IPC: G16B40/00 ; G06N3/08 ; G06N20/20 ; G06N3/084 ; G06N3/082 ; G06N3/044 ; G06N3/045

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.
Public/Granted literature
- US20200019859A1 Deep Learning-Based Pathogenicity Classifier for Promoter Single Nucleotide Variants (pSNVs) Public/Granted day:2020-01-16
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