HIGH THROUGHPUT SCREENING OF POPULATIONS CARRYING NATURALLY OCCURRING MUTATIONS
First Claim
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1. A method of detecting a genetic variation, comprising:
- (a) amplifying tagged nucleic acid molecules in a plurality of nucleic acid molecules to generate amplification products, each of the tagged nucleic acid molecules comprising one or more tag sequences;
(b) sequencing the amplification products to generate a set of sequence reads;
(c) grouping and aligning the set of sequence reads to a reference sequence using the one or more tag sequences; and
(d) detecting the genetic variation using the grouped and aligned sequence reads.
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Abstract
Efficient methods are disclosed for the high throughput identification of mutations in genes in members of mutagenized populations. The methods comprise DNA isolation, pooling, amplification, creation of libraries, high throughput sequencing of libraries, preferably by sequencing-by-synthesis technologies, identification of mutations and identification of the member of the population carrying the mutation and identification of the mutation.
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Citations
23 Claims
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1. A method of detecting a genetic variation, comprising:
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(a) amplifying tagged nucleic acid molecules in a plurality of nucleic acid molecules to generate amplification products, each of the tagged nucleic acid molecules comprising one or more tag sequences; (b) sequencing the amplification products to generate a set of sequence reads; (c) grouping and aligning the set of sequence reads to a reference sequence using the one or more tag sequences; and (d) detecting the genetic variation using the grouped and aligned sequence reads. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22)
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23. A method of detecting a genetic variation, comprising:
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(a) amplifying tagged nucleic acid molecules in a plurality of nucleic acid molecules having the genetic variation to generate amplification products, each of the tagged nucleic acid molecules comprising a tag sequence at each end; (b) performing high-throughput sequencing-by-synthesis of the amplification products of step (a) to generate a set of sequence reads; (c) grouping and aligning the set of sequence reads to a reference sequence using the tag sequence at each end; and (d) detecting the genetic variation using grouping and alignment information from step (c).
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Specification