IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

Insertions and deletions (indels) have been implicated in dozens of human diseases through the radical alteration of gene function by short frameshift indels as well as long indels. However, the accurate detection of these indels from next-generation sequencing data is still challenging. This is par...

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Publicado no:Sci Rep
Main Authors: Shigemizu, Daichi, Miya, Fuyuki, Akiyama, Shintaro, Okuda, Shujiro, Boroevich, Keith A, Fujimoto, Akihiro, Nakagawa, Hidewaki, Ozaki, Kouichi, Niida, Shumpei, Kanemura, Yonehiro, Okamoto, Nobuhiko, Saitoh, Shinji, Kato, Mitsuhiro, Yamasaki, Mami, Matsunaga, Tatsuo, Mutai, Hideki, Kosaki, Kenjiro, Tsunoda, Tatsuhiko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5884821/
https://ncbi.nlm.nih.gov/pubmed/29618752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-23978-z
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