Methods for joint calling of biological sequences

摘要

A method of calling a target biological sequence of a biological sequence source based on a set of sequence reads is disclosed. The method is performed by one or more processors executing program instructions stored on one or more memories. The instructions causing the one or more processors to perform the method comprising: obtaining biological sequence read information from a target biological sequence source and a second biological sequence source, modeling probabilities of occurrence of possible values of a set of random variables using a Bayesian network, providing one or more likely values for one or more random variables in the set of random variables and generating likely values for the target biological sequence using the Baysean network. The target source and the second source are genetically related and the set of random variables comprises a set of sequence reads that correspond to the target biological sequence source; a biological sequence of the target biological sequence source; a set of sequence reads that correspond to the second biological sequence source; and a biological sequence of the second biological sequence source and one or more random variables chosen from: contamination of a set of sequence reads that correspond to a biological sequence source; the copy number of a genomic sequence of a biological sequence source; the presence of de novo mutation in a genomic sequence of a biological sequence source; and a phenotypic trait.