1. 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
2. ExomeCNV
Identifies copy number variation from targeted exome sequencing data
标签:Targeted resequencing, Copy number estimation
3. 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
4. CNANorm
A normalization method for Copy Number Aberration in cancer samples.
标签:Cancer biology, Copy number estimation, Genomics
5. ExomeCopy
CNV detection from exome sequencing read depth
标签:Exome and Whole genome variant detection, Copy number estimation, Exome analysis
6. 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
7. 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
8. 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