Article
VPMBench: a test bench for variant prioritization methods.
BMC bioinformatics - 8 Nov 2021
Ruscheinski Andreas, Reimler Anna Lena, Ewald Roland, Uhrmacher Adelinde M
Abstract excerpt
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 disease-causing. Each time a new method is developed, its effectiveness must be evaluated and compared to other...
Topics
- Exome
- Genetic Variation
- Humans
- Software
- Exome Sequencing