Algorithm for DNA copy number variation detection with read depth and paramorphism information

摘要

Next-generation sequencing (NGS) has revolutionized the detection of structural variation in genome. Among NGS strategies, read depth is widely used and paramorphism information contained inside is generally ignored. We develop an algorithm that can fully exploit both read depth and paramorphism information. We embed mutation procedure in our system model for estimating prior likelihood of single nucleotide base. Hidden Markov model (HMM) is used to connect single base into segments and belief propagation algorithm is performed for the optimal solution of the HMM model. Simulations show promising results in detecting important types of structural variation. We have applied the algorithm on the maize B73 and MO17 genome data and compared the results with those obtained from arrayCGH method based micro-array data. Inconsistency between the two sets of data is discussed.