Patent ID: 7351532
Filing Date: 2008-04-01
Classification: C12Q

Abstract:
1. 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 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.