Abstract: The invention combines the fields of comparative genomic hybridization (CGH) analysis and SNP array analysis. It relates to methods for detecting and mapping genetic abnormalities associated with various diseases. In particular the invention provides a method for simultaneously performing array CGH and SNP array analysis on a genomic DNA sample comprising contacting a nucleic acid array which comprises a first probe set and a second probe set with a genomic DNA sample, comprising a test and reference sample, under hybridization conditions, comparing the amount of test sample and reference sample hybridized to the hybridization probes of the first probe set, comparing the amount of test sample and reference sample hybridized to the hybridization probes of the second probe set; and using the data obtained to determine the copy number of at least one locus; and at least one SNP in the genomic DNA sample.

Abstract: The invention combines the fields of comparative genomic hybridisation (CGH) analysis and SNP array analysis. It relates to methods for detecting and mapping genetic abnormalities associated with various diseases. In particular the invention provides a method for simultaneously performing array CGH and SNP array analysis on a genomic DNA sample comprising contacting a nucleic acid array which comprises a first probe set and a second probe set with a genomic DNA sample, comprising a test and reference sample, under hybridisation conditions, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the first probe set, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the second probe set; and using the data obtained to determine the copy number of at least one locus; and at least one SNP in the genomic DNA sample.

Abstract: The invention combines the fields of comparative genomic hybridization (CGH) analysis and SNP array analysis. It relates to methods for detecting and mapping genetic abnormalities associated with various diseases. In particular the invention provides a method for simultaneously performing array CGH and SNP array analysis on a genomic DNA sample comprising contacting a nucleic acid array which comprises a first probe set and a second probe set with a genomic DNA sample, comprising a test and reference sample, under hybridization conditions, comparing the amount of test sample and reference sample hybridized to the hybridization probes of the first probe set, comparing the amount of test sample and reference sample hybridized to the hybridization probes of the second probe set; and using the data obtained to determine the copy number of at least one locus; and at least one SNP in the genomic DNA sample.

Abstract: A method of enriching a sample of circulating cell-free DNA for DNA derived from a foetus or from a tumour includes carrying out amplification of DNA such that amplification of longer DNA molecules is discriminated against. This results in preferential amplification of foetal or tumour DNA, which can then be analysed using, for example, array comparative genome hybridisation.

Abstract: A method of detecting copy number variations in foetal or tumour DNA within a sample of circulating cell-free DNA includes carrying out amplification of DNA such that amplification of longer DNA molecules is discriminated against. This results in preferential amplification of foetal or tumour DNA, which can then be analysed using, for example,array comparative genome hybridisation.

Abstract: A method for the measurement of the amount or difference in the amounts of 2 or more nucleic acid targets in a sample, the method comprising the steps of attaching to nucleic acids present in the sample (1) a tag which allows the nucleic acids to be captured to a solid support; and (2) a labelled probe for a first nucleic acid target present in the sample and a labelled probe for second nucleic acid target present in the sample, and then measuring the amount of each labelled probe or difference in the amount of labelled probes; wherein the probe is not a single labelled nucleotide.

Abstract: The invention combines the fields of comparative genomic hybridisation (CGH) analysis and SNP array analysis. It relates to methods for detecting and mapping genetic abnormalities associated with various diseases. In particular the invention provides a method for simultaneously performing array CGH and SNP array analysis on a genomic DNA sample comprising contacting a nucleic acid array which comprises a first probe set and a second probe set with a genomic DNA sample, comprising a test and reference sample, under hybridisation conditions, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the first probe set, comparing the amount of test sample and reference sample hybridised to the hybridisation probes of the second probe set; and using the data obtained to determine the copy number of at least one locus; and at least one SNP in the genomic DNA sample.

Abstract: A device for individually analysing cells of interest, comprising (a) a channel for receiving the contents of a cell of interest, wherein the channel has an input end and an output end, and (b) a cell trapping site in proximity to the input end of the channel, wherein (i) the input end of the channel is adapted such that an intact cell of interest cannot enter the channel; and (ii) the channel contains one or more analytical components for analysing the contents of the cell of interest. In use, a cell is applied to the device, where it is trapped by the cell trapping means. The cell cannot enter the channel intact, but its contents can be released in situ to enter the channel's input end. The contents can then move down the channel, towards the output end, and they encounter the immobilised reagents, thereby permitting analysis of the cell contents.

Abstract: An apparatus is provided for analysing a polynucleotide. The apparatus includes: a support having an impermeable surface; porous material attached to the impermeable surface; and an array of oligonucleotides with predetermined sequences attached to the porous material. The array includes at least two defined cells, the sequence of the oligonucleotides of a first cell being different from the sequence of the oligonucleotides of a second cell, and the oligonucleotides being shorter than the polynucleotide.

Abstract: This invention provides an apparatus and method for analyzing a polynucleotide sequence, either an unknown sequence or a known sequence. A support carries an array of the whole or a chosen part of a complete set of oligonucleotides, which are capable of taking part in hybridization reactions. The polynucleotide sequence, or fragments thereof, are labeled and applied to the array under hybridizing conditions. Applications include analysis of known point mutations, genomic fingerprinting, linkage analysis, characterization of mRNAs, mRNA populations, and sequence determination.

Abstract: There are provided processes for analysing a plurality of different samples. The processes comprise the steps of: a) applying the samples to a support, to which an analytical component is immobilised; and b) allowing the samples to interact with the analytical component, thus permitting analysis of the samples. The samples are applied in step a) to different areas of the support to produce a spatial arrangement of samples on the support. The spatial arrangement of the samples is maintained in step b), thus permitting the results of the analysis to be matched to individual samples.

Abstract: An apparatus is provided for analysing a polynucleotide. The apparatus includes: a support having an impermeable surface; porous material attached to the impermeable surface; and an array of oligonucleotides with predetermined sequences attached to the porous material. The array includes at least two defined cells, the sequence of the oligonucleotides of a first cell being different from the sequence of the oligonucleotides of a second cell, and the oligonucleotides being shorter than the polynucleotide.

Abstract: A device for individually analysing cells of interest, comprising (a) a channel for receiving the contents of a cell of interest, wherein the channel has an input end and an output end, and (b) a cell trapping site in proximity to the input end of the channel, wherein (i) the input end of the channel is adapted such that an intact cell of interest cannot enter the channel; and (ii) the channel contains one or more analytical components for analysing the contents of the cell of interest. In use, a cell is applied to the device, where it is trapped by the cell trapping means. The cell cannot enter the channel intact, but its contents can be released in situ to enter the channel's input end. The contents can then move down the channel, towards the output end, and they encounter the immobilised reagents, thereby permitting analysis of the cell contents.

Abstract: A method of analysing a polynucleotide target involves incubating the target with an oligonucleotide probe, generally an array of immobilised oligonucleotide probes, to form a duplex, and using ligase or polymerase to extend one chain of the duplex. A point mutation or variable number tandem repeat section may be analysed. Arrays of immobilised oligonucleotides are provided for use in the method.

Abstract: Methods of analysing peptides by mass spectrometry are disclosed. In particular, methods of analysing peptides by fragmentation mass spectrometry (MSn, where n is at least 2) are disclosed. The methods involve derivatisation of a peptide at its N-terminus such that peaks corresponding to both a and b (and y) daughter ions are identifiable in fragmentation mass spectra of the derivatised peptide. The fragmentation mass spectra of the derivatised peptide contain additional information (relative to the fragmentation mass spectra of the underivatised peptide) useful for determination of the amino acid sequence of the peptide.

Abstract: A method of analysing a polynucleotide target involves incubating the target with an oligonucleotide probe, generally an array of immobilised oligonucleotide probes, to form a duplex, and using ligase or polymerase to extend one chain of the duplex. A point mutation or variable number tandem repeat section may be analysed. Arrays of immobilised oligonucleotides are provided for use in the method.

Abstract: The present invention pertains to trityl-type compounds comprising, bonded to the same atom, three aryl groups, of which at least one is a fluorophore and at least one has a substituent including a functional group, and wherein the compound can exist in a non-ionised state or in an ionised state conjugated with the aryl groups.

Abstract: Abstract of the Disclosure This invention provides an apparatus and method for analyzing a polynucleotide sequence; either an unknown sequence or a known sequence. A support, e.g. a glass plate, carries an array of the whole or a chosen part of a complete set of oligonucleotides which are capable of taking part in hybridization reactions. The array may comprise one or more pairs of oligonucleotides of chosen lengths. The polynucleotide sequence, or fragments thereof, are labelled and applied to the array under hybridizing conditions. Applications include analyses of known point mutations, genomic fingerprinting, linkage analysis, characterization of mRNAs, mRNA populations, and sequence determination.

Abstract: Abstract of the Disclosure This invention provides an apparatus and method for analyzing a polynucleotide sequence; either an unknown sequence or a known sequence. A support, e.g. a glass plate, carries an array of the whole or a chosen part of a complete set of oligonucleotides which are capable of taking part in hybridization reactions. The array may comprise one or more pairs of oligonucleotides of chosen lengths. The polynucleotide sequence, or fragments thereof, are labelled and applied to the array under hybridizing conditions. Applications include analyses of known point mutations, genomic fingerprinting, linkage analysis, characterization of mRNAs, mRNA populations, and sequence determination.

Abstract: A method of making a set of labelled compounds by the use of a preferably particulate support, comprises dividing the support into lots, performing a different chemical reaction on each lot of the support, e.g. to couple a chemical moiety to that lot of the support, tagging a fraction of each lot of the support with a different label, and combining the said lots of the support. The steps are repeated several times, preferably to build up oligomer molecules carrying labels which identify the nature and position of a monomer unit of the oligomer, and which are releasable from the support. Preferred labels, which are releasable from the compounds by cleavage to provide charged groups for analysis by mass spectrometry, are groups of the trityl (trimethylphenyl) family. Also claimed are libraries of these labels is and their use in assays and nucleic acid analysis methods.