METHODS AND SYSTEMS FOR GENOMIC ANALYSIS
First Claim
1. A method for genetic analysis of a subject, comprising:
- a. subjecting a first nucleic acid sample of said subject to untargeted sequencing to generate untargeted sequencing data, wherein said untargeted sequencing data has a coverage that is less than 100% of a full coverage of a genome of said subject;
b. subjecting a second nucleic acid sample of said subject to target-specific sequencing to generate target-specific sequencing data;
c. combining, with the aid of a computer processor, said untargeted sequencing data and said target-specific sequencing data to produce a combined data set; and
d. generating, with the aid of a computer processor, an output from at least a portion of said combined data set, wherein said output is indicative of a presence or absence of one or more polymorphisms in said genome of said subject or a portion of said genome.
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Accused Products
Abstract
A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.
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Citations
30 Claims
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1. A method for genetic analysis of a subject, comprising:
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a. subjecting a first nucleic acid sample of said subject to untargeted sequencing to generate untargeted sequencing data, wherein said untargeted sequencing data has a coverage that is less than 100% of a full coverage of a genome of said subject; b. subjecting a second nucleic acid sample of said subject to target-specific sequencing to generate target-specific sequencing data; c. combining, with the aid of a computer processor, said untargeted sequencing data and said target-specific sequencing data to produce a combined data set; and d. generating, with the aid of a computer processor, an output from at least a portion of said combined data set, wherein said output is indicative of a presence or absence of one or more polymorphisms in said genome of said subject or a portion of said genome. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20)
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21. A system for genetic analysis of a subject, comprising:
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a. at least one computer memory comprising untargeted sequencing data and target-specific sequencing data, wherein said untargeted sequencing data is generated by untargeted sequencing of a first nucleic acid sample of said subject and said target-specific sequencing data is generated by target-specific sequencing of a second nucleic acid sample of said subject, wherein said untargeted sequencing data has a coverage that is less than 100% of a full coverage of a genome of said subject; b. a computer processor coupled to said at least one computer memory and programmed to (i) combine said untargeted sequencing data and said target-specific sequencing data to produce a combined data set, and (ii) generate an output from at least a portion of said combined data set, wherein said output is indicative of a presence or absence of one or more polymorphisms in said genome of said subject or a portion of said genome; and c. an electronic data storage unit coupled to said computer processor, wherein said electronic data storage unit comprises said combined data set or said output. - View Dependent Claims (22, 23, 24, 25, 26, 27, 28, 29, 30)
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Specification