iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

BACKGROUND: Structural variations (SVs), such as insertions, deletions, inversions, and duplications, are a common feature in human genomes, and a number of studies have reported that such SVs are associated with human diseases. Although the progress of next generation sequencing (NGS) technologies...

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Autors principals: Mimori, Takahiro, Nariai, Naoki, Kojima, Kaname, Takahashi, Mamoru, Ono, Akira, Sato, Yukuto, Yamaguchi-Kabata, Yumi, Nagasaki, Masao
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029547/
https://ncbi.nlm.nih.gov/pubmed/24564972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-0509-7-S6-S8
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