Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression.

By integrating Haar wavelets with Hidden Markov Models, we achieve drastically reduced running times for Bayesian inference using Forward-Backward Gibbs sampling. We show that this improves detection of genomic copy number variants (CNV) in array CGH experiments compared to the state-of-the-art, inc...

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Bibliographic Details
Main Authors: John Wiedenhoeft, Eric Brugel, Alexander Schliep
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-05-01
Series:PLoS Computational Biology
Online Access:https://doi.org/10.1371/journal.pcbi.1004871
Description
Summary:By integrating Haar wavelets with Hidden Markov Models, we achieve drastically reduced running times for Bayesian inference using Forward-Backward Gibbs sampling. We show that this improves detection of genomic copy number variants (CNV) in array CGH experiments compared to the state-of-the-art, including standard Gibbs sampling. The method concentrates computational effort on chromosomal segments which are difficult to call, by dynamically and adaptively recomputing consecutive blocks of observations likely to share a copy number. This makes routine diagnostic use and re-analysis of legacy data collections feasible; to this end, we also propose an effective automatic prior. An open source software implementation of our method is available at http://schlieplab.org/Software/HaMMLET/ (DOI: 10.5281/zenodo.46262). This paper was selected for oral presentation at RECOMB 2016, and an abstract is published in the conference proceedings.
ISSN:1553-734X
1553-7358