AgileVariantMapper 20160629 – Visualise Sequence Variant data from Whole Exome Data

AgileVariantMapper 20160629

:: DESCRIPTION

AgileVariantMapper visualises sequence variant data from whole exome data, so that it is possible to identify autozygous regions in consanguineous individuals.

::DEVELOPER

Ian’s DNA@Leeds

:: SCREENSHOTS

AgileVariantMapper

:: REQUIREMENTS

  • Windows
  • Microsoft .NET framework version 2.0 

:: DOWNLOAD

 AgileVariantMapper

:: MORE INFORMATION

Citation

Carr IM, Bhaskar S, O’Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.
Autozygosity mapping with exome sequence data.
Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. PMID: 23090942.

Wessim 1.0 – Whole Exome Sequencing SIMulator using in silico exome capture

Wessim 1.0

:: DESCRIPTION

Wessim is a simulator for a targeted resequencing as generally known as exome sequencing. Wessim basically generates a set of artificial DNA fragments for next generation sequencing (NGS) read simulation.

::DEVELOPER

Sangwoo Kim

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/ Linux/ MacOsX
  • Python

:: DOWNLOAD

  Wessim

:: MORE INFORMATION

Citation

Bioinformatics. 2013 Apr 15;29(8):1076-7. doi: 10.1093/bioinformatics/btt074. Epub 2013 Feb 14.
Wessim: a whole-exome sequencing simulator based on in silico exome capture.
Kim S, Jeong K, Bafna V.