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

Abstract 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...

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Bibliografski detalji

Glavni autori:	Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2019-03-01
Serija:	Genome Biology
Teme:	Tandem repeat Repeat diseases Long-read sequencing Nanopore PacBio
Online pristup:	http://link.springer.com/article/10.1186/s13059-019-1667-6
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