V-Phaser 2.0 / V-Profiler 1.0 – Variant Calling and Visualization tools to Identify Biological Mutations in Diverse populations

V-Phaser 2.0 / V-Profiler 1.0

:: DESCRIPTION

V-Phaser is a tool to call variants in genetically heterogeneous populations from ultra-deep sequence data. V-Phaser combines information regarding the covariation (i.e. phasing) between observed variants to increase sensitivity and an expectation maximization algorithm that iteratively recalibrates base quality scores to increase specificity.

V-Profiler takes a read alignment and a list of accepted variants at each location in the alignment (such as would be generated by V-Phaser) and analyzes the intra-host diversity of a genome. This can be done at the nucleotide level over the whole sequence, at the codon level for each gene specified in a list, and at the haplotype level for any region delimited (note that the region must not exceed a read length, and is preferably of shorter length such as an epitope or a loop of interest).

::DEVELOPER

Computational R&D, The Broad Institute, Cambridge, MA

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 V-Phaser  / V-Profiler

:: MORE INFORMATION

Citation

BMC Genomics. 2013 Oct 3;14:674. doi: 10.1186/1471-2164-14-674.
V-Phaser 2: variant inference for viral populations.
Yang X, Charlebois P, Macalalad A, Henn MR, Zody MC.

PLoS Comput Biol. 2012;8(3):e1002417. doi: 10.1371/journal.pcbi.1002417. Epub 2012 Mar 15.
Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data.
Macalalad AR, Zody MC, Charlebois P, Lennon NJ, Newman RM, Malboeuf CM, Ryan EM, Boutwell CL, Power KA, Brackney DE, Pesko KN, Levin JZ, Ebel GD, Allen TM, Birren BW, Henn MR.

RegionalP 1.0 – Region-based meta-analysis of Genome-wide Association Studies in genetically Diverse Populations

RegionalP 1.0

:: DESCRIPTION

RegionalP works by quantifying the degree of over-representation of associated SNPs in a pre-defined genomic region, given a specific definition of statistical significance.

::DEVELOPER

Saw Swee Hock School of Public Health

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • C++ Compiler

:: DOWNLOAD

 RegionalP

:: MORE INFORMATION

Citation

Eur J Hum Genet. 2012 Apr;20(4):469-75. doi: 10.1038/ejhg.2011.219. Epub 2011 Nov 30.
A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations.
Wang X, Liu X, Sim X, Xu H, Khor CC, Ong RT, Tay WT, Suo C, Poh WT, Ng DP, Liu J, Aung T, Chia KS, Wong TY, Tai ES, Teo YY.