Invention Grant
- Patent Title: Ligation-based detection of genetic variants
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Application No.: US16255064Application Date: 2019-01-23
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Publication No.: US10954566B2Publication Date: 2021-03-23
- Inventor: Arnold Oliphant , Andrew Sparks , John Stuelpnagel , Ken Song
- Applicant: Ariosa Diagnostics, Inc.
- Applicant Address: US CA San Jose
- Assignee: Ariosa Diagnostics, Inc.
- Current Assignee: Ariosa Diagnostics, Inc.
- Current Assignee Address: US CA San Jose
- Agency: Mintz Levin
- Agent Jennifer Rosenfield
- Main IPC: C12Q1/6883
- IPC: C12Q1/6883 ; C12Q1/6862 ; C12Q1/6809 ; C12Q1/6827

Abstract:
The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation—, e.g., the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides—combined with detection of levels of particular genomic regions using array hybridization.
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