Performance comparison: exome-sequencing as a single test replacing Sanger-sequencing
Hila Fridman, Concetta A. Bormans, Moshe Einhorn, Daniel Au, Arjan Bormans, Yuval Porat, Luisa Fernanda Sanchez, Brent Manning, Ephrat Levy‐Lahad, 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.
Molecular Genetics and Genomics · Mar 11, 2021Peer-reviewedGenetics