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:
Oct. 19, 2021

Filed:

May. 17, 2021
Applicant:

Invitae Corporation, San Francisco, CA (US);

Inventors:

Gregory Porreca, Cambridge, MA (US);

Caleb Kennedy, Arlington, MA (US);

Assignee:

Invitae Corporation, San Francisco, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/6869 (2018.01); G16B 30/00 (2019.01); G16B 30/10 (2019.01); G16B 30/20 (2019.01);
U.S. Cl.
CPC ...
C12Q 1/6869 (2013.01); G16B 30/00 (2019.02); G16B 30/10 (2019.02); G16B 30/20 (2019.02);
Abstract

The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are aligned to the contig. Mutations are identified based on the alignments to the reference and to the contig.


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