1. CloudBurst
CloudBurst is a parallel read-mapping algorithm optimized for mapping next-generation sequence data to the human genome and other reference genomes.
标签:SNP discovery, Genotyping,Personal genomics
2. 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
3. BRCA-diagnostic
Computational screening test for BRCA1/2 mutants in human genomic DNA
标签:Personal genomics
4. GenomeJack
GenomeJack is a genome browser specialized in next-generation sequencing data. Advantages are intuitive interface and smooth drag'n drop response.
标签:Genomics, Personal genomics
5. 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
6. Ngs-pipeline
Complete solution for human re-sequencing projects
标签:Personal genomics,Epigenomics, Structural variation
7. SequenceVariantAnalyzer
DNA sequence information underpins genetic research, enabling discoversies of important biological or medical benefit. Compared with previous discovery strategies, a whole-genome sequencing study is no longer constrained by differing patterns of linkage disequilibrium, thus, in theory, ...
标签:Personal genomics, Genomics,Sequence analysis
8. Syapse
Syapse is a platform and application suite for bringing together omics and clinical data.
标签:Allele-specific transcription,DNA methylation, DNA-Seq,InDel discovery, SNP discovery, Structural variation, RNA-Seq, Small RNA transcriptome, ChIP-Seq,Comparative genomics,Comparative transcriptomics,Epigenomics, Genomics,Personal genomics, Population ge