Magnolya 0.15 – Detection of Copy Number Variation

Magnolya 0.15

:: DESCRIPTION

Magnolya is an algorithm for de novo detection of copy number variation. Magnolya directly compares two next-generation sequencing datasets.

::DEVELOPER

The Delft Bioinformatics Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows / MacOsX
  • Python

:: DOWNLOAD

 Magnolya

:: MORE INFORMATION

Citation

Bioinformatics. 2012 Oct 9. [Epub ahead of print]
De novo detection of copy number variation by co-assembly.
Nijkamp JF, van den Broek MA, Geertman JM, Reinders MJ, Daran JM, de Ridder D.

JointSLM 0.1 – Detect Recurrent Copy Number Variations in Depth of Coverage data

JointSLM 0.1

:: DESCRIPTION

The JointSLM R package allows one to simultaneously analyse multiple Depth Of Coverage (DOC) genomic profiles.

::DEVELOPER

the Computational Biology research group in Florence

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • MacOsX/Windows
  • R package

:: DOWNLOAD

  JointSLM

:: MORE INFORMATION

Citation

Nucleic Acids Res. 2011 May;39(10):e65. doi: 10.1093/nar/gkr068. Epub 2011 Feb 14.
Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm.
Magi A, Benelli M, Yoon S, Roviello F, Torricelli F.

ExomeCNV 1.4 – Exome Sequencing-based Copy-number Variation and Loss of Heterozygosity Detection

ExomeCNV 1.4

:: DESCRIPTION

ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads.

::DEVELOPER

Nelsonlab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • R package
  • Perl
  • Python
  • Samtool
  • GATK

:: DOWNLOAD

 ExomeCNV

:: MORE INFORMATION

Citation

Bioinformatics. 2011 Oct 1;27(19):2648-54. doi: 10.1093/bioinformatics/btr462. Epub 2011 Aug 9.
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.
Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, Nelson SF.

CNViewer 2.1 – Analysis and Comparison of Copy Number Variation (CNV)

CNViewer 2.1

:: DESCRIPTION

CNViewer is a user-friendly tool for analysis and comparison of Copy Number Variation (CNV). It presents several functionalities such as add sensitive (usually clinical/phenotypic) data, export module, selection of genomic region of interest and supports three methods to input data.

::DEVELOPER

Cintia C. Palu

:: SCREENSHOTS

:: REQUIREMENTS

  • Web Browser

:: DOWNLOAD

 CNViewer

:: MORE INFORMATION

CNVision 1.0 – Copy Number Variation Analysis software

CNVision 1.0

:: DESCRIPTION

CNVision is designed to simplify all stages of predicting and analyzing CNVs, from running prediction algorithms and combining their results to visualizing the raw data and designing qPCR primers for confirmation.

::DEVELOPER

The State Lab

:: SCREENSHOTS

:: REQUIREMENTS

:: DOWNLOAD

 CNVision

:: MORE INFORMATION

QuantiSNP 2.3 – Copy Number Variation (CNV) Detection

QuantiSNP 2.3

:: DESCRIPTION

QuantiSNP is an analytical tool for the analysis of copy number variation using whole genome SNP genotyping data. In its first implementation it was developed for data arising from Illumina® platforms

::DEVELOPER

QuantiSNP Team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows
  • Perl
  • matlab

:: DOWNLOAD

 QuantiSNP

:: MORE INFORMATION

Reference:

Nucleic Acids Res. 2007;35(6):2013-25. Epub 2007 Mar 6.
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J.

CNVDetector 1.1 – Locate Copy Number Variations using Array CGH data

CNVDetector 1.1

:: DESCRIPTION

CNVDetector is a program for locating copy number variations in a single genome using array CGH data. This program can detect the aberration regions in the array CGH data and output as a tabbing file.

::DEVELOPER

Kun-Mao Chao

:: SCREENSHOTS

:: REQUIREMENTS

  • Windows

:: DOWNLOAD

  CNVDetector

:: MORE INFORMATION

Citation

Chen, P.-A., Liu, H.-F., Chao, K.-M., 2008,
CNVDetector: Locating Copy Number Variations Using Array CGH Data“,
Bioinformatics, 24: 2773-2775.