SMRT Analysis 2.3.0 – Software Suite for Sequence Alignment, Assembly, Variant Detection, and Base Modification discovery

SMRT Analysis 2.3.0

:: DESCRIPTION

SMRT Analysis is a bioinformatics software suite for analyzing single molecule, real-time DNA sequencing data from Pacific Biosciences.

::DEVELOPER

Pacific Biosciences of California, Inc

:: SCREENSHOTS

SMRTAnalysis

:: REQUIREMENTS

  • Linux
  • perl
  • Java 

:: DOWNLOAD 

 SMRT Analysis

:: MORE INFORMATION

Citation

Genome Integr. 2011 Dec 20;2:10. doi: 10.1186/2041-9414-2-10.
Direct detection and sequencing of damaged DNA bases.
Clark TA, Spittle KE, Turner SW, Korlach J.

SNVer 0.5.3 / SNVerGUI – Rare and Common Variants Detection in Next Generation Sequencing

SNVer 0.5.3 / SNVerGUI

:: DESCRIPTION

SNVer is a statistical tool for calling common and rare variants in analysis of pool or individual next-generation sequencing data. It reports one single overall p-value for evaluating the significance of a candidate locus being a variant, based on which multiplicity control can be obtained. Loci with any (low) coverage can be tested and depth of coverage will be quantitatively factored into final significance calculation. SNVer runs very fast, making it feasible for analysis of whole-exome sequencing data, or even whole-genome sequencing data.

SNVerGUI is a desktop tool for variant detection from next generation sequencing data

:: SCREENSHOTS

SNVerGUI

::DEVELOPER

Zhi Wei

:: REQUIREMENTS

  • Linux/Windows/MacOsX

:: DOWNLOAD

 SNVer

:: MORE INFORMATION

Citation

Wei Z, Wang W, Hu P, Lyon GJ, and Hakonarson H,
SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data,
Nucleic Acids Research, 2011, doi: 10.1093/nar/gkr599

W Wang, W Hu, F Hou, P Hu and Wei Z,
SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data,
Journal of Medical Genetics, 2012 49 (12), 753-755.