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US 9,957,551 B2Granted
Systems and methods for validation of sequencing results
AssigneeLife Technologies Corporation
InventorsDumitru Brinza, Fiona Hyland
Life of this patent
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Abstract
Systems and method for validation of sequencing results can amplify a target region of a nucleic acid sample in the presence of a primer pool including target specific and variant specific primers. The variant specific primers can include variant specific barcodes and variant specific sequences. An amplicon can be sequenced to determine the sequence of the variant specific barcode. The variant can be identified based on the sequence of the variant specific barcode, and the location of the variant can be determined by mapping the amplicon to a reference sequence.
Claims16
A method comprising:
- amplifying a target region of a nucleic acid sample in the presence of a primer pool to produce a plurality of amplicons, the primer pool including a first and second target specific primers and a variant specific primer, the variant specific primer including a variant specific barcode sequence and a variant sequence;
- sequencing the amplicons to generate a plurality of reads;
- aligning the reads to a reference sequence;
- and
- verifying the presence of a variant at a location based on identifying reads containing the variant specific barcode sequence that map to the location.
2 more elements
A method comprising:
- amplifying a target region of a nucleic acid sample in the presence of first and second target specific primers to produce a plurality of full length target amplicons;
- amplifying the target region of a nucleic acid sample in the presence of first and second target specific primers and a variant specific primer, the variant specific primer including a variant specific barcode sequence and a variant sequence, to produce a plurality of variant specific amplicons;
- sequencing the full length target amplicons to generate a plurality of full length target reads;
- sequencing the variant specific amplicons to generate a plurality of variant specific reads;
- aligning the full length target reads and variant specific reads to a reference sequence;
- determining a sequence of the target region based on the sequence of the full length target reads;
- and
- verifying the presence of a variant at a location in the target region based on identifying reads containing the variant specific barcode sequence that map to the location.
5 more elements
Dependencies are inferred from the claim text.