VPMBench: a test bench for variant prioritization methods

Abstract Background Clinical diagnostics of whole-exome and whole-genome sequencing data requires geneticists to consider thousands of genetic variants for each patient. Various variant prioritization methods have been developed over the last years to aid clinicians in identifying variants that are...

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Autores principales: Andreas Ruscheinski, Anna Lena Reimler, Roland Ewald, Adelinde M. Uhrmacher
Formato: article
Lenguaje:EN
Publicado: BMC 2021
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Acceso en línea:https://doaj.org/article/5dce2ef8cf3d43689c1b771f49ae7724
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