Analysis methods

摘要

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.

主权项

1. A method for identifying a novel mutation associated with a disease, the method comprising:
obtaining nucleic acid from a subject having a disease; sequencing the nucleic acid to obtain a sequence of the nucleic acid; and using a computer system comprising a processor coupled to a memory for:
comparing the sequence of the nucleic acid from the subject to a reference sequence, thereby determining the presence of at least one spatially ambiguous mutation in the nucleic acid;comparing the spatially ambiguous 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;calculating an equivalent insertion/deletion region for the spatially ambiguous mutation;annotating the spatially ambiguous mutation with functional information;retrieving an extreme lower position and an extreme upper position of the equivalent insertion/deletion region for the spatially ambiguous mutation; andchoosing one of the extreme lower position and the extreme upper position of the equivalent insertion/deletion region for the spatially ambiguous mutation that is outside of a functional region, wherein said spatially ambiguous mutation is not causative of the disease.