METHODS AND SYSTEMS FOR IDENTIFYING DISEASE-INDUCED MUTATIONS

摘要

The invention includes methods and systems for identifying diseased-induced mutations by producing multi-dimensional reference sequence constructs that account for variations between individuals, different diseases, and different stages of those diseases. Once constructed, these reference sequence constructs can be used to align sequence reads corresponding to genetic samples from patients suspected of having a disease, or who have had the disease and are in suspected remission. The reference sequence constructs also provide insight to the genetic progression of the disease.

主权项

1. A method of identifying disease-induced genetic mutations, comprising
obtaining a first nucleic acid sequence corresponding to a nucleic acid in a non-diseased sample from an organism; identifying differences between the first sequence and a selected non-diseased reference sequence; preparing a first reference sequence construct representing the differences between the first sequence and the selected reference sequence as two or more alternative paths at positions in the first reference sequence construct where there is a difference between the first sequence and the reference sequence; aligning one or more reads from a second sequence corresponding to a diseased sample from the organism to the first reference sequence construct; and identifying differences between the second sequence and the first reference sequence construct as mutations due to a disease.