Method and system for genotyping
First Claim
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1. A method for genotyping comprised of the steps:
- (a) obtaining DNA or RNA material from a genome;
(b) amplifying locations of the material, with the length of the location not exceeding fifty kilobases and the location containing a polynucleotide repeat region;
(c) labelling the amplified material with labels;
(d) converting the labels with a sensing device which produces a first electrical signal;
(e) removing a reproducible pattern of the amplification from the first electrical signal to form a third electrical signal; and
(f) producing from the third electrical signal a genotype of the material at the locations.
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Abstract
The present invention pertains to a process which can be fully automated for accurately determining the alleles of STR genetic markers. More specifically, the present invention is related to performing PCR amplification on locations of DNA, labelling the PCR products, converting the labels into a signal, removing a reproducible PCR stutter pattern from the signal by means of a computational device, and then determining the genotype of the location of the DNA. An amplification can include multiple locations from the DNA of one or more individuals. The invention also pertains to genetics applications and systems which can effectively use this genotyping information.
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Citations
16 Claims
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1. A method for genotyping comprised of the steps:
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(a) obtaining DNA or RNA material from a genome; (b) amplifying locations of the material, with the length of the location not exceeding fifty kilobases and the location containing a polynucleotide repeat region; (c) labelling the amplified material with labels; (d) converting the labels with a sensing device which produces a first electrical signal; (e) removing a reproducible pattern of the amplification from the first electrical signal to form a third electrical signal; and (f) producing from the third electrical signal a genotype of the material at the locations. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 16)
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13. A system for genotyping comprising:
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(a) means for obtaining nucleic acid material from a genome; (b) means for amplifying locations of the material, said amplifying means in communication with the nucleic acid material; (c) means for assaying the amplified material based on size and concentration, said assaying means in communication with amplifying means; (d) means for converting the assayed amplified material into a first set of electrical signals corresponding to size and concentration of the amplified material at the locations, said converting means in communication with the assaying means; and (e) means for removing a reproducible pattern of amplification from the first electrical signal with a second electrical signal to form a third electrical signal, said means in communication with the sets of electrical signals. - View Dependent Claims (14)
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15. A method for analyzing genetic material of an organism comprising the steps of:
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(a) obtaining DNA or RNA material from the organism; (b) amplifying locations of the material, with the average length of the locations not exceeding fifty kilobases and each location including a polynucleotide repeat region; (c) labelling the amplified material with labels; (d) converting the labels with a sensing device which produces a first electrical signal; and (e) producing the genotype of an amplified location of the genetic material in an electronic acquisition system comprising a region having a radius of less than five feet at a rate exceeding 100 genotypes per hour.
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Specification