Gene-wise variant burden and genomic characterization of nearly every gene.

Abstract excerpt

Aim: Current gene-level prioritization methods aim to provide information for further prioritization of 'disease-causing' mutations. Since, they are inherently biased toward disease genes, methods specific to pharmacogenetic (PGx) genes are required. Methods: We proposed a gene-wise variant burden (GVB) method that integrates in silico deleteriousness scores of the multitude of variants of a given gene at a...

Topics

• Genetic Variation
• Genomics
• Humans
• Mendelian Randomization Analysis
• Mutation
• Pharmacogenetics