1. SeqSeg
An algorithm to identify chromosomal breakpoints using massively parallel sequence data
标签:Copy number estimation
2. CNVseq
标签:Copy number estimation
3. CNVer
CNVer is a method for CNV detection that supplements the depth-of-coverage with paired-end mapping information, where matepairs mapping discordantly to the reference serve to indicate the presence of variation. CNVer combines this information within a unified computational framework cal...
标签:Structural variation, Copy number estimation
4. ExomeCNV
Identifies copy number variation from targeted exome sequencing data
标签:Targeted resequencing, Copy number estimation
5. CNVnator
CNV discovery and genotyping from read-depth analysis of personal genome sequencing
标签:Copy number estimation,Genotyping
6. FREEC
A tool for control-free copy number alteration (CNA) detection using deep-sequencing data, particularly useful for cancer studies.
标签:Copy number estimation
7. CopySeq
CopySeq analyzes the depth-of-coverage of whole genome resequencing data to predict CNVs and to infer quantitative locus copy-number genotypes.
标签:Structural variation, Copy number estimation, Genotyping,Personal genomics
8. CnD
Program to detect copy number variation in inbred mouse strains
标签:Copy number estimation
9. ReadDepth
Detects copy number aberrations in deep sequencing data
标签:Copy number estimation
10. JointSLM
Copy number estimation from read depth information
标签:Copy number estimation
11. CNANorm
A normalization method for Copy Number Aberration in cancer samples.
标签:Cancer biology, Copy number estimation, Genomics
12. ExomeCopy
CNV detection from exome sequencing read depth
标签:Exome and Whole genome variant detection, Copy number estimation, Exome analysis
13. RUbioSeq
RUbioSeq has been developed to facilitate the primary and secondary analysis of resequencing projects by providing an integrated software suite of parallelized pipelines to detect exome variants (SNVs and CNVs) and to perform Bisulfite-seq analyses automatically. RUbioSeq's variant anal...
标签:Exome analysis, Copy number estimation, Bisulfite Sequencing
14. SWT
WashU Sliding Window Tool for detecting copy number variants from Illumina/Solexa data.
标签:Copy number estimation
15. CLEVER
CLEVER is a tool to discover structural variations such as (larger) insertions and deletions in genomes from paired-end sequencing reads.
标签:Genomics, Structural variation, Copy number estimation
16. Contra
Copy number analysis for exome-sequencing / targeted-resequencing. Two methods of analysis available: Case vs Control, or Case vs Baseline. Function available for creating a baseline from multiple samples.
标签:Next Generation Sequencing,Cancer biology, Genomics, Copy number estimation
17. ERDS
ERDS is a free, open-source software, designed for detection of copy number variants (CNVs) on human genomes from next generation sequence data. It uses paired Hidden Markov models (PHMM) based on the expected distribution of read depth of short reads and the presence of heterozygous si...
标签:Copy number estimation
18. Golden Helix
Golden Helix is a bioinformatic software provider and analytic service provider. The core of its business is about empowering scientists to discover more, discover it easier, and to come away with valid and reproducible bioinformatics results. The software, SNP & Variation Suite, is a s...
标签:Epigenomics, Genomics, DNA-Seq, SNP discovery, Whole Genome Resequencing Analysis,Copy number estimation,Quality Control
19. MrCaNaVaR
mrCaNaVaR is a copy number caller that analyzes the next-generation sequence mapping read depth to discover large segmental duplications and deletions. It also has the capability of predicting absolute copy numbers of genomic intervals.
标签:Genomics, Personal genomics,Copy number estimation
20. RefCov
WashU Reference Coverage tool for analyzing the depth, breadth, and topology of sequencing coverage
标签:Copy number estimation