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.

Date of Patent:
Jul. 23, 2024

Filed:

Feb. 14, 2019
Applicant:

Seven Bridges Genomics Inc., Charlestown, MA (US);

Inventor:

Ivan Johnson, Newton Upper Falls, MA (US);

Assignee:

Seven Bridges Genomics Inc., Charlestown, MA (US);

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
G16B 20/20 (2019.01); C12Q 1/68 (2018.01); G16B 30/00 (2019.01); G16B 30/10 (2019.01); G16B 30/20 (2019.01);
U.S. Cl.
CPC ...
G16B 20/20 (2019.02); C12Q 1/68 (2013.01); G16B 30/10 (2019.02); G16B 30/20 (2019.02);
Abstract

In one embodiment, a method for identifying candidate sequences for genotyping a genomic sample comprises obtaining a plurality of sequence reads mapping to a genomic region of interest. The plurality of sequence reads are assembled into a directed acyclic graph (DAG) comprising a plurality of branch sites representing variation present in the set of sequence reads, each branch site comprising two or more branches. A path through the DAG comprises a set of successive branches over two or more branch sites and represents a possible candidate sequence of the genomic sample. One or more paths through the DAG are ranked by calculating scores for one or more branch sites, wherein the calculated score comprises a number of sequence reads that span multiple branch sites in a given path. At least one path is selected as a candidate sequence based at least in part on its rank.


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