Targeted sequencing of expanded tandem repeats: Identifying interruptions and errors
Aeverie E. R. Heuchan, Ruban Rex Peter Durairaj, Alys N Aston…·Vincent Dion
The paper develops CHARLIE, a method to identify interruptions and errors in expanded tandem repeats using targeted sequencing, validated on Huntington's disease and myotonic dystrophy type 1 samples.