Robust detection of tandem repeat expansions from long DNA reads
Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
This paper develops a method to detect tandem repeat expansions from long DNA reads, identifying pathological expansions by comparing to healthy controls.
Genome biology · Mar 19, 2019Peer-reviewedGenetics