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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Publicat a:Sci Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Article
Accés en línia: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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