Method of identifying sequence variants using concatenation
AssigneeOxford Nanopore Technologies PLC
InventorsRobert Osborne, Esther Musgrave-Brown
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Abstract
Described herein, among other things, is a method of sequencing, comprising: concatenating a plurality of fragments of genomic DNA to produce concatenated DNA; sequencing the concatenated DNA to produce a plurality of sequence reads, wherein at least some of the sequence reads comprise: at least the sequence of the 3′ and/or 5′ ends of a fragment that corresponds to the locus of interest and sequence of one or both of the fragments that flank the fragment in the concatenated DNA; and grouping the sequence reads that corresponds to the locus of interest using, for each of the grouped sequence reads: the 3′ and/or 5′ end sequences; and/or the flanking sequence.
Claims14
A method of sequencing, comprising:
- (a) concatenating a plurality of molecules of cfDNA (cell-free DNA) to each other to produce concatenated cfDNA that comprises multiple molecules of the DNA joined together;
- (b) fragmenting the concatenated DNA to produce fragments of concatenated DNA;
- and
- (c) sequencing the fragments of concatenated DNA, or amplification products thereof, to produce a plurality of sequence reads.
Dependencies are inferred from the claim text.