Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorène Aeschbach, Emma L. Randall, Evgeniya Trofimenko, Eleanor R. Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J. Hafford‐Tear, Alice E. Davidson, Thomas H. Massey, , Vincent Dion
Repeat Detector accurately measures expanded tandem repeats and identifies interrupted alleles in targeted DNA sequencing data from Huntington's disease patients.
NAR Genomics and Bioinformatics · Oct 6, 2022Peer-reviewedNeuroscience