A SYSTEM AND METHOD FOR COMPENSATING NOISE IN SEQUENCE DATA FOR IMPROVED ACCURACY AND SENSITIVITY OF DNA TESTING

摘要

Some techniques for compensating noise in nucleotide sequencing data include smoothing data for a first reference sequence based on amounts of a subset of reference sequences. An amount of each reference sequence of the subset is multiplied by a corresponding smoothing factor for the reference sequence. The smoothing factor for the reference sequence is based on a spread of the amounts of the reference sequence in the training data. Some techniques include applying a hidden Markov model in which hidden states represent normal condition and a condition of interest at each of multiple pairs of complementary fractions of the sample exhibiting the condition. Transitions from a non-normal condition at a first fraction are confined to states at the first fraction. The normal condition at the first fraction can transition to a state of a different fraction only if the different state represents the normal condition at a complementary fraction.