VPMBench: a test bench for variant prioritization methods

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 likely d...

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Detalles Bibliográficos
Autores principales: Ruscheinski, Andreas, Reimler, Anna Lena, Ewald, Roland, Uhrmacher, Adelinde M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576923/
https://www.ncbi.nlm.nih.gov/pubmed/34749640
http://dx.doi.org/10.1186/s12859-021-04458-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8576923/
https://www.ncbi.nlm.nih.gov/pubmed/34749640
http://dx.doi.org/10.1186/s12859-021-04458-0

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