141. ExomeCNV
Identifies copy number variation from targeted exome sequencing data
标签:Targeted resequencing, Copy number estimation
142. BreakSeq
Database of known human breakpoint junctions and software to search short reads against them.
标签:Structural variation
143. CNVnator
CNV discovery and genotyping from read-depth analysis of personal genome sequencing
标签:Copy number estimation,Genotyping
144. Slider
A new alignment approach that reduces the alignment problem space by utilizing each read base's probabilities given in the Illumina prb files.
标签:SNP discovery
145. Quake
Program to detect and correct errors in DNA sequencing reads. Using a maximum likelihood approach incorporating quality values and nucleotide specific miscall rates,
标签:
146. MapView
Visualization of short reads alignment on desktop computer
标签:
147. Qpalma
QPalma is an alignment tool targeted to align spliced reads produced by Next Generation sequencing platforms
标签:RNA-Seq Alignment
148. Prinseq
PRINSEQ is a sequence processing tool that can be used to filter, reformat and trim genomic and metagenomic sequence data. It generates summary statistics of the input in graphical and tabular formats that can be used for quality control steps. PRINSEQ is available as both standalone an...
标签:Metagenomics, Genomics,Metatranscriptomics
149. DeFuse
deFuse is a software package for gene fusion discovery using RNA-Seq data. The software uses clusters of discordant paired end alignments to inform a split read alignment analysis for finding fusion boundaries. The software also employs a number of heuristic filters in an attempt to red...
标签:Fusion genes, RNA-Seq, Fusion transcripts
150. PASS
PASS performs fast gapped and ungapped alignments of short DNA sequences onto a reference DNA, typically a genomic sequence. It is designed to handle a huge amount of reads such as those generated by Solexa, SOLiD or 454 technologies. The algorithm is based on a data structure that hold...
标签:
151. FragGeneScan
Application for finding (fragmented) genes in short reads
标签:Metagenomics
152. Oases
De novo transcriptome assembler for very short reads De novo transcriptome assembler for very short reads De novo transcriptome assembler for very short reads
标签:De novo transcriptome assembly
153. SplitSeek
de novo prediction of splice junctions in short-read RNA-seq data, suitable for detection of novel splicing events and chimeric transcripts.
标签:RNA-Seq Alignment
154. Bismark
Bismark is a tool to map bisulfite treated sequencing reads and perform methylation calling in a quick and easy-to-use fashion.
标签:Epigenomics, Genomics, DNA methylation
155. GASV
Software for classification and comparison of structural variants measured via paired-end sequencing and/or array-CGH.
标签:Structural variation
156. Novocraft
Novoalign is a program for mapping short reads from the Illumina/SOLiD sequencing platform(s) to a reference genome. Package for aligning short reads to reference genomes
标签:Genomics, Whole Genome Resequencing, RNA-Seq Alignment, ChIP-Seq, MiRNA
157. Savant Genome Browser
Savant is a genome browser which combines visualization of HTS and other genome-based data with powerful analytic tools.
标签:Genomics
158. MARGARITA
SNP discovery and genotyping from low-coverage sequencing data
标签:SNP discovery, Genotyping
159. LookSeq
AJAX-based browser for deep sequencing data
标签:
160. PerM
PerM (Periodic Seed Mapping) uses periodic spaced seeds to significantly improve mapping efficiency for large reference genomes when compared to state-of-the-art programs.
标签:Genomics, SNP discovery