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AssigneeCanon U.S. Life Sciences, Inc.
InventorSami Kanderian
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The present invention relates to methods and systems for the analysis of the dissociation behavior of nucleic acids and the identification of determining whether a genotype is present in a biological sample. This includes methods and systems for determining whether a genotype is present in a biological sample, through generating a dynamic profile an unknown genotype, correlating the dynamic profile to an average profile for a known genotype to generate a correlation value, and determining whether the correlation value falls within an acceptable threshold to determine if the unknown genotype is the known genotype. The present invention also relates to methods and systems for generating a training set to allow a machine to recognize a known genotype from within a class of known genotypes. The training set generated by these methods and systems may be used to assist in identification of unknown genotypes.
A method of determining the identity of the genotype of a nucleic acid present in a biological sample, said method comprising the steps of:
A method of determining the identity of the genotype of a nucleic acid present in a biological sample, said method comprising the steps of:
A system for determining the identity of the genotype of a nucleic acid present in a biological sample, said system comprising:
Dependencies are inferred from the claim text.
From the US filing history. Foreign family members aren’t listed.
ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations: allele or variant detection, e.g. single…
Hybridisation assays: for detection of mutation or polymorphism
Ict specially adapted for sequence analysis involving nucleotides or amino acids
Ict specially adapted for biostatistics
About 3 years 10 months of term left · ends 26 Aug 2030 (estimated)
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1. Field of the Invention
The present invention relates to methods for the analysis of nucleic acids and the identification of genotypes present in biological samples. More specifically, embodiments of the present invention relate to automated methods for genotyping and analyzing the sequences of nucleic acids.
2. Description of Related Art
The accompanying drawings, which are incorporated herein and form part of the specification, illustrate various embodiments of the present invention.
FIGS. 1A and 1B illustrate a flowchart showing a method of generating a training set to recognize a known genotype from within a class of known genotypes in accordance with embodiments of the present invention.
FIG. 2 illustrates fluorescence versus temperature dynamic profiles for each genotype within the Warfarin VKORC1 class.
The present invention has several embodiments and relies on patents, patent applications and other references for details known to those of the art. Therefore, when a patent, patent application, or other reference is cited or repeated herein, it should be understood that it is incorporated by reference in its entirety for all purposes as well as for the proposition that is recited.
The practice of the present invention may employ, unless otherwise indicated, conventional techniques and descriptions of organic chemistry, polymer technology, molecular biology (including recombinant techniques), cell biology, biochemistry, and immunology, which are within the skill of the art. Such conventional techniques include polymer array synthesis, hybridization, ligation, and detection of hybridization using a label. Specific illustrations of suitable techniques can be had by reference to the example herein below. However, other equivalent conventional procedures can, of course, also be used. Such conventional techniques and descriptions can be found in standard laboratory manuals such as Genome Analysis: A Laboratory Manual Series (Vols. I-IV), Using Antibodies: A Laboratory Manual, Cells: A Laboratory Manual, PCR Primer: A Laboratory Manual, and Molecular Cloning: A Laboratory Manual (all from Cold Spring Harbor Laboratory Press), Stryer, L. (1995) Biochemistry (4th Ed.) Freeman, N.Y., Gait, Oligonucleotide Synthesis: A Practical Approach, 1984, IRL Press, London, Nelson and Cox (2000), Lehninger, Principles of Biochemistry 3rd Ed., W. H. Freeman Pub., New York, N.Y. and Berg et al. (2002) Biochemistry, 5th Ed., W. H. Freeman Pub., New York, N.Y., all of which are herein incorporated in their entirety by reference for all purposes.
Thermal melt curves of fluorescence have been used to determine the melting temperature of a DNA strand when denatured from the duplex state to the two separate single strands via a ramp increase in temperature. Typically, the melting temperature or Tm is defined to be the temperature at which 50% of the paired DNA strands have denatured into single strands. Intercalating dyes that fluoresce when bound to double stranded DNA and lose their fluorescence when denatured are often used in measuring Tm. Typically, the negative derivative of fluorescence with respect to temperature (−dF/dT) has been used in the determination of Tm. In typical systems, the temperature at the peak −dF/dT is used as an estimate of the melting temperature Tm.