Nicholas G Phillips

US Patent:

20220284984, Sep 8, 2022

Filed:

May 3, 2022

Appl. No.:

17/735906

Inventors:

- Menlo Park CA, US
Nicholas Phillips - Menlo Park CA, US
Jason Harris - Menlo Park CA, US

Assignee:

Personalis, Inc. - Menlo Park CA

International Classification:

G16B 20/20
G16B 40/20

Abstract:

Methods for somatic variant calling from an unmatched biological samples is provided. The method can include obtaining nucleic acid sequence data corresponding to a biological sample of a subject. The method can also include aligning the nucleic acid sequence data to a reference genome. The method can also include identifying, based on the aligned nucleic acid sequence data, a set of candidate variants in said nucleic acid sequence data. The set of candidate variants may include one or more somatic variants and one or more germline variants. The method can also include, without using a nucleic acid sequencing data from a matching biological sample of the subject, processing the set of candidate variants using a trained machine-learning model to identify the somatic variants. The method can also include outputting a report that identifies the somatic variants.