- Patent Title: Phasing and linking processes to identify variations in a genome
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Application No.: US14503872Application Date: 2014-10-01
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Publication No.: US10468121B2Publication Date: 2019-11-05
- Inventor: Bahram Ghaffarzadeh Kermani , Radoje Drmanac , Brock A. Peters
- Applicant: Complete Genomics, Inc.
- Applicant Address: US CA San Jose
- Assignee: Complete Genomics, Inc.
- Current Assignee: Complete Genomics, Inc.
- Current Assignee Address: US CA San Jose
- Agency: Kilpatrick Townsend & Stockton LLP
- Main IPC: G16B30/00
- IPC: G16B30/00 ; G16B20/00 ; G06F19/10

Abstract:
Long fragment read techniques can be used to identify deletions and resolve base calls by utilizing shared labels (e.g., shared aliquots) of a read with any reads corresponding to heterozygous loci (hets) of a haplotype. For example, the linking of a locus to a haplotype of multiple hets can increase the reads available at the locus for determining a base call for a particular haplotype. For a hemizygous deletion, a region can be linked to one or more hets, and the labels for a particular haplotype can be used to identify which reads in the region correspond to which haplotype. In this manner, since the reads for a particular haplotype can be identified, a hemizygous deletion can be determined. Further, a phasing rate of pulses can be used to identify large deletions. A deletion can be identified with the phasing rate is sufficiently low, and other criteria can be used.
Public/Granted literature
- US20150094961A1 PHASING AND LINKING PROCESSES TO IDENTIFY VARIATIONS IN A GENOME Public/Granted day:2015-04-02
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