Invention Grant
- Patent Title: Base calling using convolutions
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Application No.: US16874633Application Date: 2020-05-14
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Publication No.: US11593649B2Publication Date: 2023-02-28
- Inventor: Emrah Kostem
- 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
- Main IPC: G06N3/08
- IPC: G06N3/08 ; G06N3/04 ; G06V10/75

Abstract:
We propose a neural network-based base caller that detects and accounts for stationary, kinetic, and mechanistic properties of the sequencing process, mapping what is observed at each sequence cycle in the assay data to the underlying sequence of nucleotides. The neural network-based base caller combines the tasks of feature engineering, dimension reduction, discretization, and kinetic modelling into a single end-to-end learning framework. In particular, the neural network-based base caller uses a combination of 3D convolutions, 1D convolutions, and pointwise convolutions to detect and account for assay biases such as phasing and prephasing effect, spatial crosstalk, emission overlap, and fading.
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