Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads

Tandemly repeated DNA is highly mutable and causes at least 31 diseases, but it is hard to detect pathogenic repeat expansions genome-wide. Here, we report robust detection of human repeat expansions from careful alignments of long but error-prone (PacBio and nanopore) reads to a reference genome. O...

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Detalhes bibliográficos
Publicado no:Genome Biol
Main Authors: Mitsuhashi, Satomi, Frith, Martin C., Mizuguchi, Takeshi, Miyatake, Satoko, Toyota, Tomoko, Adachi, Hiroaki, Oma, Yoko, Kino, Yoshihiro, Mitsuhashi, Hiroaki, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6425644/
https://ncbi.nlm.nih.gov/pubmed/30890163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-019-1667-6
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