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