SCYN – Single Cell CNV profiling method using Dynamic Programming

SCYN

:: DESCRIPTION

SCYN is a CNV (Copy number variation) segmentation method powered with dynamic programming. SCYN resolves the precise segmentation on in silico dataset.

::DEVELOPER

SCYN team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Python

:: DOWNLOAD

SCYN

:: MORE INFORMATION

Citation

Feng X, Chen L, Qing Y, Li R, Li C, Li SC.
SCYN: single cell CNV profiling method using dynamic programming.
BMC Genomics. 2021 Nov 16;22(Suppl 5):651. doi: 10.1186/s12864-021-07941-3. PMID: 34789142.

CNV Workshop 2.0.11 – Analyzing Genome Variation such as Copy Number Variation (CNV)

CNV Workshop 2.0.11

:: DESCRIPTION

CNV Workshop is a web-enabled platform for analyzing genome variation such as copy number variation (CNV).

::DEVELOPER

CNV Workshop team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX

:: DOWNLOAD

 CNV Workshop

:: MORE INFORMATION

Citation

BMC Bioinformatics. 2010 Feb 4;11:74. doi: 10.1186/1471-2105-11-74.
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.
Gai X1, Perin JC, Murphy K, O’Hara R, D’arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS.

EXCAVATOR 2.2 / EXCAVATOR2 1.1.2 / XCAVATOR – Tool for Detecting CNVs from Whole-exome Sequencing data

EXCAVATOR 2.2 / EXCAVATOR2 1.1.2 / XCAVATOR

:: DESCRIPTION

EXCAVATOR is a novel software package for the detection and classification of genomic regions involved in copy numner variants that uses whole-exome sequencing data generated by second generation sequencing technologies.

EXCAVATOR2 is a collection of bash, R and Fortran scripts and codes that analyses Whole Exome Sequencing (WES) data to identify CNVs. EXCAVATOR2 enhances the identification of all genomic CNVs, both overlapping and non-overlapping targeted exons by integrating the analysis of In-targets and Off- targets reads.

XCAVATOR is a novel software package for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments.

::DEVELOPER

EXCAVATOR team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • MacOsX/Linux
  • R package
  • Perl
  • Fortron

:: DOWNLOAD

 EXCAVATOR / EXCAVATOR2 / XCAVATOR

:: MORE INFORMATION

Citation

Magi A, Pippucci T, Sidore C.
XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.
BMC Genomics. 2017 Sep 21;18(1):747. doi: 10.1186/s12864-017-4137-0. PMID: 28934930; PMCID: PMC5609061.

D’Aurizio R, Pippucci T, Tattini L, Giusti B, Pellegrini M, Magi A.
Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.
Nucleic Acids Res. 2016 Nov 16;44(20):e154. doi: 10.1093/nar/gkw695. Epub 2016 Aug 9. PMID: 27507884; PMCID: PMC5175347.

Genome Biol. 2013;14(10):R120.
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
Magi A, Tattini L, Cifola I, D’Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF.

cnvCSEM – CNV-guided Multi-read Allocation for ChIP-seq

cnvCSEM

:: DESCRIPTION

cnvCSEM  (CNV: -guided C: hIP-S: eq by E: xpectation-M: aximization algorithm), is a flexible framework that incorporates CNV in multi-read allocation.

::DEVELOPER

Qi Zhang (qizhang at stat dot wisc dot edu)

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux /  Windows / MacOsX
  • C++ Compiler
  • Perl
  • Bowtie
:: DOWNLOAD

 cnvCSEM

:: MORE INFORMATION

Citation

CNV-guided Multi-read Allocation for ChIP-seq.
Zhang Q, Keleş S.
Bioinformatics. 2014 Jun 24. pii: btu402.

CNVannotator 20131114 – Annotation Server for Copy Number Variation (CNV) in Humans

CNVannotator 20131114

:: DESCRIPTION

CNVannotator is a web server that accepts an input set of human genomic positions in a user-friendly tabular format.

::DEVELOPER

Bioinformatics and Systems Medicine Laboratory,

:: SCREENSHOTS

n/a

:: REQUIREMENTS

  • Web Browser

:: DOWNLOAD

 NO

:: MORE INFORMATION

Citation:

PLoS One. 2013 Nov 14;8(11):e80170. doi: 10.1371/journal.pone.0080170. eCollection 2013.
CNVannotator: a comprehensive annotation server for copy number variation in the human genome.
Zhao M1, Zhao Z.

CNVAnalyst – Statistical, Bioinformatic, and Visual Analyses of CNVs

CNVAnalyst

:: DESCRIPTION

CNVAnalyst is a Java GUI for statistical, bioinformatic, and visual analyses of CNVs(copy number variants). CNVAnalyst assists in the choice of the optimal CNV calling method and its parameters for each CNV dataset.

::DEVELOPER

Duke Molecular Physiology Institute

:: SCREENSHOTS

:: REQUIREMENTS

  • Windows / Mac /  Linux
  • Java

:: DOWNLOAD

 CNVAnalyst

:: MORE INFORMATION

cnvCapSeq 0.1.2 – Detecting & Genotyping CNV in Long-range Targeted Resequencing

cnvCapSeq 0.1.2

:: DESCRIPTION

cvnCapSeq is a set of Java-based command-line tools for detecting and genotyping copy number variation (CNV) in targeted resequencing experiments of large contiguous genomic regions.

::DEVELOPER

cnvCapSeq team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows
  • JRE

:: DOWNLOAD

 cnvCapSeq

:: MORE INFORMATION

Citation

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.
Bellos E, Kumar V, Lin C, Maggi J, Phua ZY, Cheng CY, Cheung CM, Hibberd ML, Wong TY, Coin LJ, Davila S.
Nucleic Acids Res. 2014 Nov 10;42(20):e158. doi: 10.1093/nar/gku849.

cnvHiTSeq 0.1.2 – Detect and Genotype CNVs in WGS data

cnvHiTSeq 0.1.2

:: DESCRIPTION

cnvHiTSeq is a  software for detecting and genotyping CNVs in WGS data

::DEVELOPER

Dr Lachlan J Coin

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • Java

:: DOWNLOAD

 cnvHiTSeq

:: MORE INFORMATION

Citation

Genome Biol. 2012 Dec 22;13(12):R120. doi: 10.1186/gb-2012-13-12-r120.
cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data.
Bellos E, Johnson MR, M Coin LJ.

SubPatCNV – Mine CNV Subspace Patterns

SubPatCNV

:: DESCRIPTION

SubPatCNV (Subspace Pattern-ming of Copy Number Variations) is a tool for mining CNV subspace patterns, which is able to identify all aberrant CNV regions specific to arbitrary patient subsets larger than a support threshold. SubPatCNV is an approximate association pattern mining algorithm under a spatial constraint on the positional CNV probe features. In the experiments on a large-scale bladder cancer dataset, SubPatCNV discovered many large aberrant CNV events in patient subgroups and also reported CNV regions highly specific to clinical variables such as tumor grade or stage and enriched with more known oncogenes compared with other existing CNV discovery methods.

::DEVELOPER

Kuang Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / WIndows / MacOsX
  • Matlab

:: DOWNLOAD

  SubPatCNV

:: MORE INFORMATION

Citation

BMC Bioinformatics. 2015 Jan 16;16(1):16. [Epub ahead of print]
SubPatCNV: approximate subspace pattern mining for mapping copy-number variations.
Johnson N, Zhang H, Fang G, Kumar V, Kuang R.

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