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

Documentation