Analysis methods
First Claim
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1. A method for identifying a novel mutation associated with a disease, the method comprising:
- obtaining nucleic acid from a subject having a disease;
determining that the nucleic acid comprises a variant comprising an insertion or deletion;
comparing the variant to a database of variants known to be associated with the disease, wherein a variant that does not match to the database is identified as a novel variant;
determining a lower boundary and an upper boundary of an equivalent insertion/deletion region (EIR) of the novel variant;
determining that part of the EIR falls within a functional region.
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Abstract
The invention generally relates to methods for analyzing nucleic acids to identify novel mutations associated with diseases. In certain embodiments, methods of the invention involve obtaining nucleic acid from a subject having a disease, identifying at least one mutation in the nucleic acid, and comparing the mutation to a database of mutations known to be associated with the disease, wherein mutations that do not match to the database are identified as novel mutations.
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Citations
10 Claims
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1. A method for identifying a novel mutation associated with a disease, the method comprising:
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obtaining nucleic acid from a subject having a disease; determining that the nucleic acid comprises a variant comprising an insertion or deletion; comparing the variant to a database of variants known to be associated with the disease, wherein a variant that does not match to the database is identified as a novel variant; determining a lower boundary and an upper boundary of an equivalent insertion/deletion region (EIR) of the novel variant; determining that part of the EIR falls within a functional region. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9)
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10. A method for determining if a mutation is causative of a disease, the method comprising:
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conducting an assay to obtain a nucleic acid sequence from a subject having a disease; determining a presence of at least one novel variant comprising an insertion or deletion in the sequence; annotating the variant with appropriate functional information; identifying a lower and upper boundary of an equivalent insertion/deletion region (EIR) of the novel variant; and determining that part of the EIR falls within a functional region.
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Specification