GARCOM: A user-friendly R package for genetic mutation counts.

Abstract excerpt

Next-generation sequencing (NGS) has enabled analysis of rare and uncommon variants in large study cohorts. A common strategy to overcome these low frequencies and/or small effect sizes relies on collapsing strategies, i.e. to bin variants within genes/regions. Several tools are now available for advanced statistical analyses; however, tools to perform basic tasks such as obtaining allelic counts within defined...

Topics

• Humans
• Mutation
• Software
• High-Throughput Nucleotide Sequencing