Abstract: The invention is directed to a method for analysing genome wide variation in an individual. The method comprises randomly fragmenting the individual's genome and generating sequence reads of multiple bases on all fragments of the individual's genome, aligning the sequence reads generated with a known genomic reference sequence, and analysing variations between the sequence reads derived from the individual's genome and the known genomic reference sequence.

Abstract: Methods for amplification and sequencing of at least one nucleic acid comprising the following steps: (1) forming at least one nucleic acid template comprising the nucleic acid(s) to be amplified or sequenced, wherein said nucleic acid(s) to be amplified or sequenced, wherein said nucleic acid(s) contains at the 5? end an oligonucleotide sequence Y and at the 3? end an oligonucleotide sequence Z and, in addition, the nucleic acid(s) carry at the 5? end a means for attaching the nucleic acid(s) to a solid support; (2) mixing said nucleic acid template(s) with one or more colony primers X, which can hybridize to the oligonucleotide sequence Z and carries at the 5? end a means for attaching the colony primers to a solid support, in the presence of a solid support so that the 5? ends of both the nucleic acid template and the colony primers bind to the solid support; (3) performing one or more nucleic acid amplification reactions on the bound template(s), so that nucleic acid colonies are generated and optionally,

Abstract: The invention relates to the sequencing of a target polynucleotide sequence, immobilized on a solid support, using the polymerase reaction to extend a suitable primer and characterizing the sequential addition of labelled bases. The present invention further relates to the presence of a polymerase enzyme that retains a 3′ to 5′ exonuclease function, which is induced to remove an incorporated labelled base after detection of incorporation. A corresponding non-labelled base may then be incorporated into the complementary strand to allow further sequence determinations to be made. Repeating the procedure allows the sequence of the complement to be identified, and thereby the target sequence.

Abstract: A device comprising an array of molecules immobilised on a solid surface is disclosed, wherein the array has a surface density which allows each molecule to be individually resolved, e.g. by optical microscopy. Therefore, the arrays of the present invention consist of single molecules are more spatially distinct than the arrays of the prior art.

Abstract: A device comprising an array of molecules immobilised on a solid surface is disclosed, wherein the array has a high density of relatively short molecules and relatively long polynucleotides immobilised on the surface of a solid support, wherein the polynucleotides are at a density that permits individual resolution of those parts thereof that extend beyond the relatively short molecules.

Abstract: Methods are disclosed for forming spatially addressable arrays of polynucleotides of known squence, by using blocking groups that prevent the incorporation of multiple nucleotides during each incorporation step.

Abstract: The invention encompasses a method for determining a single nucleotide polymorphism present in a genome, comprising: (a) immobilizing polynucleotide molecules onto the surface of a support to form an array comprising polynucleotides located at addresses capable of interrogation, wherein each address of at least a subset of addresses on the array corresponds to a single polynucleotide molecule, and the array permits the subset of addresses to be individually resolved by optical microscopy, and wherein each such single polynucleotide molecule comprises a portion that is immobilized by covalent bonding to the surface and a portion that is capable of interrogation; (b) interrogating an address that corresponds to a single polynucleotide molecule to identify nucleotide sequence in the single polynucleotide molecule; and (c) comparing the nucleotides identified in step (b) with a known consensus sequence, and thereby determining differences between the consensus sequence and the sequence of the single polynucleotid