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Prioritising positively selected variants in whole-genome sequencing data using FineMAV.

Fadilla WahyudiFarhang AghakhanianSadequr RahmanYik-Ying TeoMichał SzpakJasbir DhaliwalQasim Ayub
Published in: BMC bioinformatics (2021)
The software tool described here determines genome-wide FineMAV scores, using low or high-coverage whole-genome sequencing datasets, that can be used to prioritize a list of population specific, highly differentiated candidate variants for in vitro or in vivo functional screens. The tool displays these scores on the human genome browsers for easy visualisation, annotation and comparison between different genomic regions in worldwide human populations.
Keyphrases
  • genome wide
  • copy number
  • endothelial cells
  • dna methylation
  • induced pluripotent stem cells
  • high throughput
  • electronic health record
  • big data
  • data analysis
  • gene expression
  • machine learning
  • artificial intelligence