IUPAC Consensus References Improve Short-Read Variant Detection in Clinically Challenging Regions: A Stratified Benchmarking Study with BurdenBench
Akzam Saidin, Michael G. Ricos, Leanne M. Dibbens
This study evaluates IUPAC consensus references for improving variant detection in challenging genomic regions using a stratified benchmarking framework called BurdenBench.