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...
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
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
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...
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
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