Automatic genotype determination
First Claim
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1. A device for determining the genotype at a locus within genetic material obtained from a subject, the device comprising:
- (a) a reaction value generator that produces a first reaction value, indicative of the presence of a given allele at the locus, the first reaction value being attributable to reaction of the material at the locus;
(b) a digital storage medium, coupled to the reaction value generator, for storing as part of a data set the first reaction value received from the reaction value generator and other reaction values obtained under comparable conditions;
(c) distribution establishment means for retrieving data in the data set, and establishing from the data a set of probability distributions, including at least one distribution, the probability distributions associating hypothetical reaction values with corresponding probabilities for each genotype of interest at the locus;
(d) genotype calculation means for calculating the conditional probability of each genotype of interest at the locus by retrieving the first reaction value from the digital storage medium and applying the first reaction value to each probability distribution in the set of probability distributions that is pertinent to the first reaction value; and
(e) genotype determination means for accessing data produced from the genotype calculation means to determine the genotype.
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Abstract
A device determines the genotype at selected loci within genetic material obtained from a biological sample. One or more data sets are formed and a set of probability distributions including at least one distribution is established. These distributions associate hypothetical reaction values with corresponding probabilities for each genotype of interest at the same locus or at different loci. The genotype is then determined based on these measures.
100 Citations
14 Claims
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1. A device for determining the genotype at a locus within genetic material obtained from a subject, the device comprising:
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(a) a reaction value generator that produces a first reaction value, indicative of the presence of a given allele at the locus, the first reaction value being attributable to reaction of the material at the locus; (b) a digital storage medium, coupled to the reaction value generator, for storing as part of a data set the first reaction value received from the reaction value generator and other reaction values obtained under comparable conditions; (c) distribution establishment means for retrieving data in the data set, and establishing from the data a set of probability distributions, including at least one distribution, the probability distributions associating hypothetical reaction values with corresponding probabilities for each genotype of interest at the locus; (d) genotype calculation means for calculating the conditional probability of each genotype of interest at the locus by retrieving the first reaction value from the digital storage medium and applying the first reaction value to each probability distribution in the set of probability distributions that is pertinent to the first reaction value; and (e) genotype determination means for accessing data produced from the genotype calculation means to determine the genotype. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14)
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Specification