GenomicScores

GenomicScores provides programmatic storage and retrieval of genomewide position-specific scores in R to support analyses of conservation, constraint, fitness, and mutation tolerance across genomes.

Key Features:

• Efficient storage: Infrastructure for storing large genomewide position-specific scores estimating conservation, constraint, fitness, and mutation tolerance.
• Programmatic access from R: Direct retrieval of stored scores into R for incorporation into computational workflows.
• Bioconductor integration: Integration with the Bioconductor project to leverage its genomic data structures and downstream tools.
• Implementation and licensing: Implemented in R and distributed on Bioconductor under the Artistic-2.0 license.

Scientific Applications:

• Conservation analysis: Quantifying evolutionary conservation across the genome using position-specific scores.
• Constraint studies: Identifying genomic regions under selective constraint using position-specific scores.
• Fitness and mutation tolerance assessment: Evaluating impact of variants by mapping mutation tolerance and fitness-related scores across the genome.

Methodology:

Integration of diverse genomic data sources into a unified framework within R to store and provide programmatic access to genomewide position-specific scores.