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High throughput screening of populations carrying naturally occurring mutations

  • US 9,657,335 B2
  • Filed: 10/07/2016
  • Issued: 05/23/2017
  • Est. Priority Date: 09/29/2005
  • Status: Active Grant
First Claim
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1. A method for the detection of a mutation in a target sequence, comprising:

  • (a) providing a plurality of pools of amplification products each comprising the target sequence amplified from a nucleic acid of a subset of the one or more members of the population, wherein each pool of the amplification products shares a unique pool identifier;

    (b) performing high throughput sequencing to sequence the amplification products; and

    (c) clustering/aligning the sequences of the amplified products without the use of an enzyme which recognizes and cuts single nucleotide sequence mismatches and without performing heteroduplex analysis, and detecting the one or more members and/or pools carrying the mutation using the pool identifier.

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