Key result
PCR-based next-generation sequencing involves a risk of allelic dropout affecting up to 0.77% of amplicons, reducing diagnostic yield and necessitating validation with Sanger sequencing.
Why the study?
The diagnostic yield of genetic testing for primary cardiomyopathies fails to exceed 60%, and whether allelic dropout reduces diagnostic yield during targeted gene panel sequencing was investigated.
Population
232 patients
Comparison
Targeted gene panels on Ion Torrent platform vs capillary Sanger sequencing
Authors
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Alerts clinicians to possible ADO in negative CMP NGS results; leaves open whether mitigation strategies raise diagnostic yield.
Observational (n=232)
PCR-based next-generation sequencing for primary cardiomyopathies carries a risk of allelic dropout due to variants in primer binding sites, necessitating Sanger sequencing validation.
Shestak et al. (2021) conducted an observational in Inherited cardiomyopathies (n=232). PCR-based sequencing of targeted gene panels vs. Capillary Sanger sequencing was evaluated on Allelic dropout events. PCR-based next-generation sequencing involves a risk of allelic dropout affecting up to 0.77% of amplicons, reducing diagnostic yield and necessitating validation with Sanger sequencing.
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