SEQUENCE ASSEMBLY
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Accused Products
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.
11 Citations
32 Claims
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1-12. -12. (canceled)
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13. A method for assembling sequence reads, the method comprising:
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obtaining a plurality of sequence reads; creating a contig from at least some of the plurality of sequence reads; aligning the contig to a reference sequence; and aligning each of the plurality of sequence reads to the contig. - View Dependent Claims (14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 31, 32)
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30. The method of 13, wherein the plurality of sequence reads are obtained by a computer system comprising a processor coupled to a non-transitory memory and the computer system performs the creating step and the aligning steps.
Specification