The present invention provides detection systems and methods for detection of loci and genomic regions in a sample, including mixed samples, using hybridization to an array.

The present invention concerns a method of sequencing immobilized polynucleotides in which beads which are tethered to the solid support are used as labels to identify bases within the polynucleotides. The beads carry sets of probes or bases which can bind to the polynucleotide allowing identification of the target base(s). Identification of the base(s) is achieved through sequential application of different cleavage means specific to different probes/bases carried on the beads. Also provided is an apparatus for performing the method and a kit comprising the apparatus and other components necessary for performing the method.

The present invention concerns a method of sequencing immobilized polynucleotides in which beads which are tethered to the solid support are used as labels to identify bases within the polynucleotides. The beads carry sets of probes or bases which can bind to the polynucleotide allowing identification of the target base(s). Identification of the base(s) is achieved through sequential application of different cleavage means specific to different probes/bases carried on the beads. Also provided is an apparatus for performing the method and a kit comprising the apparatus and other components necessary for performing the method.

Disclosed is an enhanced method for rapid and cost-effective analysis of sequences of a microorganism by qPCR. These methods identify allelic variation, SNPs, and genetic mutations of a particular gene such as those responsible for conferring resistance or sensitivity to an antibiotic, chemotherapy, or another chemical compound. By selection of appropriate gene regions, mutation loci that confer resistance to key antibiotics can be identified by qPCR. Additionally, the approach can identify heteroresistant strains, e.g., populations of strains from a sample that contain both mutation and wild-type nucleotides. By selecting appropriate that bind efficiently to the area of mutation can identify resistance conferring mutations. Methods are useful to sequences derived from viral agents, such as influenza virus, bacterial agents, such as tuberculosis bacteria, and cancer cells.

Disclosed is an enhanced method for rapid and cost-effective analysis of sequences of a microorganism by qPCR. These methods identify allelic variation, SNPs, and genetic mutations of a particular gene such as those responsible for conferring resistance or sensitivity to an antibiotic, chemotherapy, or another chemical compound. By selection of appropriate gene regions, mutation loci that confer resistance to key antibiotics can be identified by qPCR. Additionally, the approach can identify heteroresistant strains, e.g., populations of strains from a sample that contain both mutation and wild-type nucleotides. By selecting appropriate that bind efficiently to the area of mutation can identify resistance conferring mutations. Methods are useful to sequences derived from viral agents, such as influenza virus, bacterial agents, such as tuberculosis bacteria, and cancer cells.

A DNA nano device (2) and a method of producing a DNA nano device (2) for detecting a biomarker are provided. The DNA nano device (2) includes an ensemble of DNA formations. The formations include a detector (4) adapted to accept a target biomarker and thereby to release a trigger DNA sequence; an amplifier (6) adapted for hybridisation with the trigger DNA sequence which thereby releases a key DNA sequence and the trigger DNA sequence or a further trigger DNA sequence; and a responder (8) adapted for hybridisation with the key DNA sequence and thereby to produce a signal. The DNA nano device (2) thereby produces a signal detectable to an observer in response to the detection of the target biomarker.

A DNA nano device (2) and a method of producing a DNA nano device (2) for detecting a biomarker are provided. The DNA nano device (2) includes an ensemble of DNA formations. The formations include a detector (4) adapted to accept a target biomarker and thereby to release a trigger DNA sequence; an amplifier (6) adapted for hybridisation with the trigger DNA sequence which thereby releases a key DNA sequence and the trigger DNA sequence or a further trigger DNA sequence; and a responder (8) adapted for hybridisation with the key DNA sequence and thereby to produce a signal. The DNA nano device (2) thereby produces a signal detectable to an observer in response to the detection of the target biomarker.

Aspects of the present disclosure relate generally to methods, compositions, and kits for preparing a ligation-based or amplicon-based library in situ for sequencing.

Aspects of the present disclosure relate generally to methods, compositions, and kits for preparing a ligation-based or amplicon-based library in situ for sequencing.

The invention relates to methods of detecting a genetic variation in a genetic sample from a subject using labeled probes and counting the number of labels in the probes.