title: PriVar: a toolkit for prioritizing SNVs and indels from next-generation sequencing data.
abstract: Next-generation sequencing has become a valuable tool for detecting mutations involved in Mendelian diseases. However, it is a challenge to identify the small subset of functionally important mutations from tens of thousands of rare variants in a whole exome/genome. Therefore, we developed a toolkit called PriVar, a systematic prioritization pipeline that takes into consideration calling quality of the variants, their predicted functional impact, known connection of the gene to the disease and the number of mutations in a gene, and inference from linkage analysis.
  
  
  BACKGROUND
  Executable jar package is available at http://paed.hku.hk/uploadarea/yangwl/html/software.html.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong Kong.
authors.forename: Lu
authors.initials: L
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Dingge
authors.initials: D
authors.lastname: Ying
authors.forename: Yu Lung
authors.initials: YL
authors.lastname: Lau
authors.forename: Wanling
authors.initials: W
authors.lastname: Yang
mesh_terms: D059472:Exome; D008040:Genetic Linkage; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D054643:INDEL Mutation; D009154:Mutation; D012984:Software