The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jul. 16, 2024
Filed:
Sep. 18, 2018
Applicant:
Seven Bridges Genomics Inc., Cambridge, MA (US);
Inventor:
Deniz Kural, Cambridge, MA (US);
Assignee:
Seven Bridges Genomics Inc., Charlestown, MA (US);
Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G16B 30/10 (2019.01); C12Q 1/6869 (2018.01); G16B 30/00 (2019.01); G16B 30/20 (2019.01);
U.S. Cl.
CPC ...
G16B 30/10 (2019.02); C12Q 1/6869 (2013.01); G16B 30/00 (2019.02); G16B 30/20 (2019.02);
Abstract
The invention provides methods and system for making specific base calls at specific loci using a reference sequence construct, e.g., a directed acyclic graph (DAG) that represents known variants at each locus of the genome. Because the sequence reads are aligned to the DAG during alignment, the subsequent step of comparing a mutation, vis-a-vis the reference genome, to a table of known mutations can be eliminated. The disclosed methods and systems are notably efficient in dealing with structural variations within a genome or mutations that are within a structural variation.