Dataset Information

BiomvRhsmm: genomic segmentation with hidden semi-Markov model.

ABSTRACT: High-throughput technologies like tiling array and next-generation sequencing (NGS) generate continuous homogeneous segments or signal peaks in the genome that represent transcripts and transcript variants (transcript mapping and quantification), regions of deletion and amplification (copy number variation), or regions characterized by particular common features like chromatin state or DNA methylation ratio (epigenetic modifications). However, the volume and output of data produced by these technologies present challenges in analysis. Here, a hidden semi-Markov model (HSMM) is implemented and tailored to handle multiple genomic profile, to better facilitate genome annotation by assisting in the detection of transcripts, regulatory regions, and copy number variation by holistic microarray or NGS. With support for various data distributions, instead of limiting itself to one specific application, the proposed hidden semi-Markov model is designed to allow modeling options to accommodate different types of genomic data and to serve as a general segmentation engine. By incorporating genomic positions into the sojourn distribution of HSMM, with optional prior learning using annotation or previous studies, the modeling output is more biologically sensible. The proposed model has been compared with several other state-of-the-art segmentation models through simulation benchmarking, which shows that our efficient implementation achieves comparable or better sensitivity and specificity in genomic segmentation.

SUBMITTER: Du Y

PROVIDER: S-EPMC4065698 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

biomvRhsmm: genomic segmentation with hidden semi-Markov model.

Du Yang Y Murani Eduard E Ponsuksili Siriluck S Wimmers Klaus K

BioMed research international 20140603

High-throughput technologies like tiling array and next-generation sequencing (NGS) generate continuous homogeneous segments or signal peaks in the genome that represent transcripts and transcript variants (transcript mapping and quantification), regions of deletion and amplification (copy number variation), or regions characterized by particular common features like chromatin state or DNA methylation ratio (epigenetic modifications). However, the volume and output of data produced by these tech ...[more]

PMID: 24995333

Similar Datasets

Project description:BackgroundMovement pattern variations are reflective of behavioural switches, likely associated with different life history traits in response to the animals' abiotic and biotic environment. Detecting these can provide rich information on the underlying processes driving animal movement patterns. However, extracting these signals from movement time series, requires tools that objectively extract, describe and quantify these behaviours. The inference of behavioural modes from movement patterns has been mainly addressed through hidden Markov models. Until now, the metrics implemented in these models did not allow to characterize cyclic patterns directly from the raw time series. To address these challenges, we developed an approach to i) extract new metrics of cyclic behaviours and activity levels from a time-frequency analysis of movement time series, ii) implement the spectral signatures of these cyclic patterns and activity levels into a HMM framework to identify and classify latent behavioural states.ResultsTo illustrate our approach, we applied it to 40 high-resolution European sea bass depth time series. Our results showed that the fish had different activity regimes, which were also associated (or not) with the spectral signature of different environmental cycles. Tidal rhythms were observed when animals tended to be less active and dived shallower. Conversely, animals exhibited a diurnal behaviour when more active and deeper in the water column. The different behaviours were well defined and occurred at similar periods throughout the annual cycle amongst individuals, suggesting these behaviours are likely related to seasonal functional behaviours (e.g. feeding, migrating and spawning).ConclusionsThe innovative aspects of our method lie within the combined use of powerful, but generic, mathematical tools (spectral analysis and hidden Markov Models) to extract complex behaviours from 1-D movement time series. It is fully automated which makes it suitable for analyzing large datasets. HMMs also offer the flexibility to include any additional variable in the segmentation process (e.g. environmental features, location coordinates). Thus, our method could be widely applied in the bio-logging community and contribute to prime issues in movement ecology (e.g. habitat requirements and selection, site fidelity and dispersal) that are crucial to inform mitigation, management and conservation strategies.

Dataset Information

BiomvRhsmm: genomic segmentation with hidden semi-Markov model.

Publications

biomvRhsmm: genomic segmentation with hidden semi-Markov model.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure