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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
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Method
Online adgang: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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