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Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Molecular genetics and genomics : MGG - 1 May 2021

Fridman Hila, Bormans Concetta, Einhorn Moshe, Au Daniel, Bormans Arjan, Porat Yuval, Sanchez Luisa Fernanda, Manning Brent, Levy-Lahad Ephrat, Behar Doron M

Abstract excerpt

Next generation sequencing tests are used routinely as first-choice tests in the clinic. However, systematic performance comparing the results of exome sequencing as a single test replacing Sanger sequencing of targeted gene(s) is still lacking. Performance comparison data are critically important for clinical case management. In this study, we compared Sanger-sequencing results of 258 genes to those obtained...

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PMID: 33694043
DOI: 10.1007/s00438-021-01772-3

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