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Paper Details

Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
222
2017
ALS, C9orf72 repeat, ExpansionHunter, Friedreich's ataxia, Huntington's disease, STRs, amyotrophic lateral sclerosis, fragile X syndrome, long repeat, pathogenic repeat, patients, read length, short tandem repeats, wild-type samples
Author NameAffiliation
Bryan R Lajoie
Sean Humphray
Rosa RademakersMayo Clinic
Pamela J ShawSheffield Institute for Translational Neuroscience, University of Sheffield
David E HousmanMassachusetts Institute of Technology
David R Bentley
David R Bentley
Michael A Eberle
Michael A Eberle
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