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

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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Bibliographic Details
Main Authors: Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
Format: Article
Language:English
Published: BMC 2019-03-01
Series:Genome Biology
Subjects:
Tandem repeat
Repeat diseases
Long-read sequencing
Nanopore
PacBio
Online Access:http://link.springer.com/article/10.1186/s13059-019-1667-6

Internet

http://link.springer.com/article/10.1186/s13059-019-1667-6

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