Invention Grant
- Patent Title: Systems and methods for determining structural variation and phasing using variant call data
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Application No.: US15019928Application Date: 2016-02-09
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Publication No.: US10854315B2Publication Date: 2020-12-01
- Inventor: Sofia Kyriazopoulou-Panagiotopoulou , Patrick Marks , Michael Schnall-Levin , Xinying Zheng , Mirna Jarosz , Serge Saxonov , Kristina Giorda , Patrice Mudivarti , Heather Ordonez , Jessica Terry , William Haynes Heaton
- Applicant: 10X Genomics, Inc.
- Applicant Address: US CA Pleasanton
- Assignee: 10X Genomics, Inc.
- Current Assignee: 10X Genomics, Inc.
- Current Assignee Address: US CA Pleasanton
- Agency: Morgan, Lewis & Bockius LLP
- Main IPC: G16B30/00
- IPC: G16B30/00 ; G16B20/00

Abstract:
Systems and methods for determining structural variation and phasing using variant call data obtained from nucleic acid of a biological sample are provided. Sequence reads are obtained, each comprising a portion corresponding to a subset of the test nucleic acid and a portion encoding a barcode independent of the sequencing data. Bin information is obtained. Each bin represents a different portion of the sample nucleic acid. Each bin corresponds to a set of sequence reads in a plurality of sets of sequence reads formed from the sequence reads such that each sequence read in a respective set of sequence reads corresponds to a subset of the nucleic acid represented by the bin corresponding to the respective set. Binomial tests identify bin pairs having more sequence reads with the same barcode in common than expected by chance. Probabilistic models determine structural variation likelihood from the sequence reads of these bin pairs.
Public/Granted literature
- US20160232291A1 SYSTEMS AND METHODS FOR DETERMINING STRUCTURAL VARIATION AND PHASING USING VARIANT CALL DATA Public/Granted day:2016-08-11
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