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:
Mar. 29, 2022
Filed:
Aug. 04, 2017
Seven Bridges Genomics, Inc., Cambridge, MA (US);
John Browning, Woburn, MA (US);
Deniz Kural, Somerville, MA (US);
Seven Bridges Genomics, Inc., Cambridge, MA (US);
Abstract
Computer-implemented methods and systems for performing a local assembly of a genomic region of interest include the de novo or assisted creation of a directed graph, such as a directed acyclic graph (DAG), from a plurality of obtained nucleotide sequence reads. First and second sequence reads are aligned to each other to define at least one node of the DAG. Successive alignments of the remaining sequence reads to the then-defined DAG are performed to extend nodes and/or add nodes to the DAG. Graph-aware alignment techniques that produce alignment scores or indicators are employed in defining the nodes of the DAG from the sequence reads. The created DAG represents and describes in detail the genomic region of interest and can be used to perform variant calls.