FineMAV
FineMAV identifies positively selected genetic variants across human populations from whole-genome sequencing data to prioritize population-specific, high-frequency, functionally derived polymorphisms.
Key Features:
- High-Throughput Analysis: Performs high-throughput processing of large whole-genome sequencing datasets.
- Variant Prioritization: Prioritizes population-specific, high-frequency, and functionally derived variants indicative of positive selection.
- FineMAV Statistic Computation: Computes genome-wide FineMAV statistics to identify candidate variants under positive selection, applicable to low- and high-coverage whole-genome sequencing.
- Population-Scale Data Support: Operates on population-based genomic sequences, including datasets such as the 1000 Genomes Project.
- bigWig Output for Visualization: Exports statistics in the bigWig file format for visualization and annotation in genome browsers.
Scientific Applications:
- Population Genomics: Detects adaptive genetic variation and candidates of positive selection across human populations.
- Comparative Population Analysis: Enables comparison of genomic regions and FineMAV scores across populations (e.g., African, European, East Asian).
- Regional Dataset Analysis: Applies FineMAV scoring to regional datasets such as those from Singapore and China to identify localized adaptive variants.
- Annotation and Visualization: Facilitates annotation and visual comparison of candidate loci using bigWig outputs in genome browsers.
Methodology:
Calculates genome-wide FineMAV statistics from population-based whole-genome sequencing data (low- and high-coverage) and produces bigWig files for downstream visualization and annotation.
Topics
Details
- License:
- MIT
- Cost:
- Free of charge
- Tool Type:
- command-line tool
- Operating Systems:
- Linux
- Programming Languages:
- Python
- Added:
- 6/7/2022
- Last Updated:
- 6/7/2022
Operations
Publications
Wahyudi F, Aghakhanian F, Rahman S, Teo Y, Szpak M, Dhaliwal J, Ayub Q. Prioritising positively selected variants in whole-genome sequencing data using FineMAV. BMC Bioinformatics. 2021;22(1). doi:10.1186/s12859-021-04506-9. PMID:34922440. PMCID:PMC8684245.
PMID: 34922440
PMCID: PMC8684245
Funding: - Monash University Malaysia: Monash Graduate Research Scholarship