GeneticsMolecular Genetics and GenomicsPeer-reviewed
Performance comparison: exome-sequencing as a single test replacing Sanger-sequencing
Hila Fridman, Concetta A. Bormans, Moshe Einhorn…·Doron M. Behar
This study compares exome-sequencing and Sanger-sequencing for variant detection across 258 genes, finding high concordance and similar performance between methods.
13 citations