VASP – Variant Analysis of Sequenced Pedigrees

VASP

:: DESCRIPTION

VASP is a standalone perl software package designed to analyse sequenced pedigrees.

::DEVELOPER

VASP team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/ Linux /MacOsX
  • Perl

:: DOWNLOAD

 VASP

:: MORE INFORMATION

Citation

Reducing the search space for causal genetic variants with VASP: Variant Analysis of Sequenced Pedigrees.
Field MA, Cho V, Cook MC, Enders A, Vinuesa C, Whittle B, Andrews TD, Goodnow CC.
Bioinformatics. 2015 Mar 8. pii: btv135.

PBAP 1.0 – Pedigree-based Analysis Pipeline

PBAP 1.0

:: DESCRIPTION

PBAP is a pipeline for file processing and quality control of pedigree data with dense genetic markers.

::DEVELOPER

Ellen M. Wijsman

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

 PBAP

:: MORE INFORMATION

Citation:

PBAP: A pipeline for file processing and quality control of pedigree data with dense genetic markers.
Nato AQ Jr, Chapman NH, Sohi HK, Nguyen HD, Brkanac Z, Wijsman EM.
Bioinformatics. 2015 Jul 30. pii: btv444.

famSKAT-RC 20140725 – Combining Family- and Population-based Imputation data for Association analysis of Rare and common Variants in large Pedigrees

famSKAT-RC 20140725

:: DESCRIPTION

famSKAT-RC is an R scripts to carry out a combined rare- and common-variant gene-based test of association in the presence of related individuals.

::DEVELOPER

Ellen M. Wijsman

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • R

:: DOWNLOAD

 famSKAT-RC

:: MORE INFORMATION

Citation:

Genet Epidemiol. 2014 Nov;38(7):579-90. doi: 10.1002/gepi.21844. Epub 2014 Aug 1.
Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees.
Saad M1, Wijsman EM.

plotIBD 20111108 – Plotting Sampled Inheritance Vectors in Pedigrees

plotIBD 20111108

:: DESCRIPTION

plotIBD is a perl script to assist with plotting sampled inheritance vectors in pedigrees

::DEVELOPER

Ellen M. Wijsman

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

 plotIBD

:: MORE INFORMATION

Citation:

Hum Hered. 2011;72(4):289-97. doi: 10.1159/000334083. Epub 2011 Dec 23.
Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis.
Marchani EE1, Wijsman EM.

PRIMUS 1.8.0 – Pedigree Reconstruction and Identification of a Maximum Unrelated Set

PRIMUS 1.8.0

:: DESCRIPTION

PRIMUS is a pedigree reconstruction algorithm that uses estimates of genome-wide identity by descent to reconstruct pedigrees consistent with observed genetic data.

::DEVELOPER

PRIMUS team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

 PRIMUS

:: MORE INFORMATION

Citation

PRIMUS: Improving Pedigree Reconstruction using Mitochondrial and Y Haplotypes.
Staples J, Ekunwe L, Lange E, Wilson JG, Nickerson DA, Below JE.
Bioinformatics. 2015 Oct 29. pii: btv618

PedVizApi 0.15 – Visual Analysis of large and complex Pedigrees

PedVizApi 0.15

:: DESCRIPTION

PedVizApi is a Java Api for the visual analysis of large and complex pedigrees. It provides all the necessary functionality for the interactive exploration of extended genealogies. Available packages are mostly focused on a static representation or cannot be added to an existing application; the goal of this open-source library is to provide an application program interface that enables the efficient construction of visual analytic applications for the analysis of family based data.

::DEVELOPER

the Center of Biomedicine (CBM) at EURAC research.

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux/windows/MacOsX
  • Java

:: DOWNLOAD

 PedVizApi

:: MORE INFORMATION

Citation

Fuchsberger, Falchi, Forer, Pramstaller (2007),
PedVizApi: A Java API for the interactive, visual analysis of extended pedigrees“,
Bioinformatics, 24(2):279-281

reHCstar 2.1.5 – Algorithm for Haplotype Inference problem on Pedigree data with Recombinations, Errors and Mutations

reHCstar 2.1.5

:: DESCRIPTION

reHCstar is a SAT-based program to compute a haplotype configuration on pedigrees with recombinations, genotyping errors, and missing genotypes.

::DEVELOPER

AlgoLab

:: SCREENSHOTS

N/A

::REQUIREMENTS

  • Linux
  • CMake
  • GNU make
  • Boost FileSystem, System, DateTime, ProgramOptions, IOStreams, and other include-only libraries
  • Apache Log4cxx

:: DOWNLOAD

 reHCstar

:: MORE INFORMATION

Citation

Yuri Pirola, Gianluca Della Vedova, Stefano Biffani, Alessandra Stella, and Paola Bonizzoni.
A fast and practical approach to genotype phasing and imputation on a pedigree with erroneous and incomplete information.
IEEE/ACM Transactions on Computational Biology and Bioinformatics (2012).

Heu-MCHC 1.0.2 – Heuristic Algorithm for the Haplotype Inference problem on Pedigree data with recombinations and mutations

Heu-MCHC 1.0.2

:: DESCRIPTION

Heu-MCHC is a fast and accurate heuristic for the Minimum-Change Haplotype Configuration (MCHC) problem, i.e. a combinatorial formulation of the haplotype inference problem on pedigree data where the total number of recombinations and point mutations has to be minimized.

::DEVELOPER

AlgoLab

:: SCREENSHOTS

N/A

::REQUIREMENTS

  • Linux

:: DOWNLOAD

 Heu-MCHC 

:: MORE INFORMATION

Citation

Yuri Pirola, Paola Bonizzoni, and Tao Jiang.
An Efficient Algorithm for Haplotype Inference on Pedigrees with Recombinations and Mutations.
IEEE/ACM Transactions on Computational Biology and Bioinformatics, Volume: 9 , Issue: 1 Page(s): 12 – 25 (2011).

PedCut 1.19 – Cutting large and complex Pedigrees for Linkage Analysis

PedCut 1.19

:: DESCRIPTION

PedCut is a program for cutting complex pedigree into computable sub-pedigrees with user-specified MaxBit size

::DEVELOPER

Group of the Methods of Genetic Analysis

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Perl

:: DOWNLOAD

 PedCut

:: MORE INFORMATION

Citation:

Eur J Hum Genet. 2008 Jul;16(7):854-60. doi: 10.1038/ejhg.2008.24. Epub 2008 Feb 27.
An approach for cutting large and complex pedigrees for linkage analysis.
Liu F, Kirichenko A, Axenovich TI, van Duijn CM, Aulchenko YS.

VIPER 1.01 – Exploring and Cleaning Inheritance Inconsistencies within Pedigree/Genotype Data

VIPER 1.01

:: DESCRIPTION

VIPER  (Visual Pedigree Explorer) combines an improved ResSpecies algorithm for genotype inheritance checking and inference with a novel space-efficient visualisation of pedigree structure in a desktop tool for exploring then cleaning data errors in pedigree/genotype datasets.

::DEVELOPER

Roslin Bioinformatics

:: SCREENSHOTS

VIPER

:: REQUIREMENTS

  • Linux/MacOsX / Windows
  • Java

:: DOWNLOAD

 VIPER

:: MORE INFORMATION

Citation

BMC Bioinformatics. 2012;13 Suppl 8:S5. doi: 10.1186/1471-2105-13-S8-S5. Epub 2012 May 18.
VIPER: a visualisation tool for exploring inheritance inconsistencies in genotyped pedigrees.
Paterson T, Graham M, Kennedy J, Law A.