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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Genome Biol
Huvudupphovsmän: Mitsuhashi, Satomi, Frith, Martin C., Mizuguchi, Takeshi, Miyatake, Satoko, Toyota, Tomoko, Adachi, Hiroaki, Oma, Yoko, Kino, Yoshihiro, Mitsuhashi, Hiroaki, Matsumoto, Naomichi
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2019
Ämnen:
Method
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk