1. ExomeCNV
Identifies copy number variation from targeted exome sequencing data
标签:Targeted resequencing, Copy number estimation
2. SLOPE
Detects structural variants from targeted short DNA reads
标签:Structural variation, Targeted resequencing
3. IBD2
Our algorithm uses a non-homogeneous hidden Markov model (HMM) that employs local recombination rates to identify chromosomal regions that are identical by descent (IBD=2) in children of consanguineous or non-consanguineous parents solely based on genotype data of siblings derived from ...
标签:Targeted resequencing
4. SESAME
Gnotyping of multiplexed individuals for several markers based on NGS amplicon sequencing.
标签:Genotyping, Targeted resequencing
5. TEQC
Quality assessment of target enrichment experiments.
标签:Targeted resequencing
6. Mlgt
Processing and analysis of high throughput, long-read (e.g. Roche 454) sequences generated from multiple loci and multiple biological samples. Sequences are assigned to their locus and sample of origin, aligned and trimmed. Where possible, genotypes are called and variants mapped to kno...
标签:Genotyping, Targeted resequencing, Resequencing
7. GensearchNGS
A user friendly framework for re-sequencing in a diagnostics context: searching for mutations/variants, especially on well known genes.
标签:Targeted resequencing
8. MagicViewer
Large-scale short reads and sequencing depth visualization.
标签:De novo sequencing, Targeted resequencing
9. NextGENe
de novo and reference assembly of Roche/454, Illumina and SOLiD data. Uses a novel Condensation Assembly Tool approach where reads are joined via "anchors" into mini-contigs before assembly which reduces sequencing errors. Requires Win or MacOS.
标签:De novo sequencing,Metagenomics, SNP discovery,InDel discovery, Targeted resequencing