Invitae Corporation
SEQUENCE ASSEMBLY

Last updated:

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.

Status:
Application
Type:

Utility

Filling date:

17 May 2021

Issue date:

2 Sep 2021