Patent ID: 7351532

Claim:
A method for determining the identity of one or more mutations or single nucleotide polymorphisms (SNPs) in a genome, comprising: a. contacting a sample genome, under conditions which permit template dependent oligonucleotide ligation, with a plurality of different oligonucleotide molecules which comprise (i) a first set of at least two oligonucleotides, each comprising a sequence of nucleotides that is complementary to a region on said genome that includes a known SNP site, wherein a nucleotide complementary to the known SNP site is at or near the 5′ end of each of said oligonucleotides and, each of said oligonucleotides further comprises a unique label which is a unique coding sequence of nucleotides, wherein said unique coding sequence of nucleotides is specific for the nucleotide complementary to the known SNP site and the position of the SNP to be scored, (ii) a second set of at least two oligonucleotides, each oligonucleotide comprising a sequence of nucleotides complementary to a region on said target genome for hybridisation with said target genome adjacent to the 5′ end of an oligonucleotide of said first set of at least two oligonucleotides, and a surface capture moiety, a phosphate moiety being located at any of either the 5′ end of said first set of at least two oligonucleotides or the 3′ end of said second set of at least two oligonucleotides, wherein said contacting effects hybridization of the first and second set of at least two oligonucleotides to the sample genome and generates ligated oligonucleotides, b. immobilising the ligated oligonucleotides on a solid support via the surface capture moiety to generate immobilised ligated oligonucleotides, c. performing a sequencing reaction on the immobilised ligated oligonucleotides to determine at least the unique coding sequence of nucleotides of one or more of said unique labels, wherein determining the unique coding sequence of nucleotides of a unique label identifies the nucleotide complementary to the known SNP site and the position of the SNP to be scored, and comparing identified nucleotides complementary to known SNP sites in any of said immobilised oligonucleotides to those of one or more reference SNPs.