PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

@inproceedings{Escarams2013PeSVFisherIO,
  title={PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data},
  author={Ge{\`o}rgia Escaram{\'i}s and Cristian Tornador and Laia Bassaganyas and Raquel Rabionet and Jose Manuel C. Tubio and Alexander Mart{\'i}nez-Fundichely and Mario C{\'a}ceres and Marta Gut and Stephan Ossowski and Xavier Estivill},
  booktitle={PloS one},
  year={2013}
}
UNLABELLED Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the existence of higher complexity SVs in some genomes becomes more evident, but the detection and definition of most of these complex rearrangements is still in its infancy. The full characterization of SVs is a key aspect for discovering their biological implications… CONTINUE READING
Highly Cited
This paper has 21 citations. REVIEW CITATIONS
Related Discussions
This paper has been referenced on Twitter 2 times. VIEW TWEETS

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

BSSV: Bayesian based somatic structural variation identification with whole genome DNA-seq data

2014 36th Annual International Conference of the IEEE Engineering in Medicine and Biology Society • 2014
View 5 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 48 references

The Sequence Alignment/Map format and SAMtools

Bioinformatics • 2009
View 2 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…