Invention Grant
- Patent Title: Systems and methods for detecting structural variants
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Application No.: US15921812Application Date: 2018-03-15
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Publication No.: US10984887B2Publication Date: 2021-04-20
- Inventor: Rajesh Gottimukkala , Fiona Hyland , Sowmi Utiramerur , Jeoffrey Schageman , Susan Magdaleno
- Applicant: LIFE TECHNOLOGIES CORPORATION
- Applicant Address: US CA Carlsbad
- Assignee: LIFE TECHNOLOGIES CORPORATION
- Current Assignee: LIFE TECHNOLOGIES CORPORATION
- Current Assignee Address: US CA Carlsbad
- Main IPC: C12Q1/6858
- IPC: C12Q1/6858 ; C12Q1/6869 ; G16B20/00

Abstract:
Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.
Public/Granted literature
- US20180276335A1 SYSTEMS AND METHODS FOR DETECTING STRUCTURAL VARIANTS Public/Granted day:2018-09-27
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