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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Detaylı Bibliyografya
Yayımlandı:Genome Biol
Asıl Yazarlar: Mitsuhashi, Satomi, Frith, Martin C., Mizuguchi, Takeshi, Miyatake, Satoko, Toyota, Tomoko, Adachi, Hiroaki, Oma, Yoko, Kino, Yoshihiro, Mitsuhashi, Hiroaki, Matsumoto, Naomichi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2019
Konular:
Method
Online Erişim: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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