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http://cran.r-project.org/web/packages/ExomeDepth/

Software that calls copy number variants (CNVs) from targeted sequence data, typically exome sequencing experiments designed to identify the genetic basis of Mendelian disorders.

Proper citation: ExomeDepth (RRID:SCR_002663) Copy   

•   Source: SciCrunch Registry

http://sourceforge.net/projects/b-o-s-s/

Batch primer selection software program designed to select PCR oligos for gap closure for assemblies containing a large number of gaps. It will select oligos for gap closure of both contig and scaffold gaps.

Proper citation: Batch Oligo Selection Script (RRID:SCR_002808) Copy   

•   Source: SciCrunch Registry

https://github.com/rcanovas/libCSAM

Contains several C++ codes for compress, decompress, and access each of the fields of any SAM format file.

Proper citation: libCSAM (RRID:SCR_002766) Copy   

•   Source: SciCrunch Registry

http://cran.r-project.org/web/packages/FisHiCal/

Software that integrates Hi-C and FISH data, offering a modular and easy-to-use tool for chromosomal spatial analysis.

Proper citation: FisHiCal (RRID:SCR_002799) Copy   

•   Source: SciCrunch Registry

https://github.com/alibashir/pacmonstr

Software that implements a reference-based probabilistic approach to identify the Tandem Repeat (TR) region and estimate the number of these TR elements in long DNA reads.

Proper citation: PacmonSTR (RRID:SCR_002796) Copy   

•   Source: SciCrunch Registry

https://github.com/lh3/ropebwt2

A software tool for constructing the FM-index for a collection of DNA sequences. It works by incrementally inserting one or multiple sequences into an existing pseudo-BWT position by position, starting from the end of the sequences. This algorithm can be largely considered a mixture of BCR and dynamic FM-index. Nonetheless, ropeBWT2 is unique in that it may implicitly sort the input into reverse lexicographical order (RLO) or reverse-complement lexicographical order (RCLO) while building the index.

Proper citation: RopeBWT2 (RRID:SCR_002673) Copy   

•   Source: SciCrunch Registry

https://github.com/zd1/telseq

Software that measures average telomere length from whole genome or exome shotgun sequence data.

Proper citation: TelSeq (RRID:SCR_002730) Copy   

•   Source: SciCrunch Registry

https://github.com/ahmohamed/NetPathMiner

Software that implements a flexible module-based process flow for network path mining and visualization, which can be fully inte-grated with user-customized functions. It supports construction of various types of genome scale networks from three different pathway file formats (KGML, SBML and BioPAX), enabling its utility to most common pathway databases. In addition, it provides different visualization techniques to facilitate the analysis of even thousands of output paths.

Proper citation: NetPathMiner (RRID:SCR_002757) Copy   

•   Source: SciCrunch Registry

http://yu68.github.io/GATE/

Model-based, open source software analysis tool for chromatin states prediction based on time-course epigenetic marks data. It uses a combinatory Finite Mixture model nested with HMM to model the time course marks data in which each single hidden markov model describes the hidden states for a region set across different time points.

Proper citation: GATE (RRID:SCR_002756) Copy   

•   Source: SciCrunch Registry

https://code.google.com/p/methylkit/

An R package for DNA methylation analysis and annotation from high-throughput bisulfite sequencing., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: methylKit (RRID:SCR_005177) Copy   

•   Source: SciCrunch Registry

http://sourceforge.net/projects/gesnd/

A software package and a pipeline for identifying causal mutations for rare congenital diseases by next-generation sequencing. Features * one-stop solution for identifying causal mutations of rare genetic diseases * detect wide-spctrum variants, including medium and large sized indels, and tandem repeats * annotate and filter variants * prioritize candidate variants

Proper citation: GESND (RRID:SCR_005179) Copy   

•   Source: SciCrunch Registry

http://www.well.ox.ac.uk/~kgaulton/chaos.shtml

A Perl-based system for annotation of variants identified in high-throughput sequencing experiments. Functionality includes annotation of variants with information relating to population genetics, known transcripts, positional records, and sequence motif-based prediction. In addition, annotated variants can be summarized and extracted to facilitate downstream analysis. There is also basic support for gene-based biological annotation, and eventually will include tools for variant and genotype analysis and visualization.

Proper citation: CHAoS (RRID:SCR_005174) Copy   

•   Source: SciCrunch Registry

http://anntools.sourceforge.net/

Software tool for annotating single nucleotide substitutions (SNP/SNV), small insertions/deletions (indels), and copy number variations (CNV) calls generated from sequencing and microarray data. Only human genome build 37/hg19 can be annotated at this time.

Proper citation: AnnTools (RRID:SCR_005170) Copy   

•   Source: SciCrunch Registry

http://www.broadinstitute.org/software/pathseq/

A computational tool for the identification and analysis of microbial sequences in high-throughput human sequencing data that is designed to work with large numbers of sequencing reads in a scalable manner. This process is composed of a subtractive phase in which input reads are subtracted by alignment to human reference sequences, and an analytic phase in which the remaining reads are aligned to microbial reference sequences (viral, fungal, bacterial, archaeal) and de novo assembled. PathSeq is currently available in a cloud computing environment via Amazon Web Services The typical approach one would take to pathogen discovery with PathSeq: RNA or DNA is extracted from the tissue of interest and sequencing libraries are constructed to be run on the next-generation DNA sequencing platform of choice. The resulting sequence data is run through the PathSeq pipeline in a cloud computing environment. PathSeq reports potential microbes in the sequence data as well as the complete set of reads that could not be identified as human or microbial sequences.

Proper citation: PathSeq (RRID:SCR_005203) Copy   

•   Source: SciCrunch Registry

http://cbrc.kaust.edu.sa/readscan/

A highly scalable parallel software program to identify non-host sequences (of potential pathogen origin) and estimate their genome relative abundance in high-throughput sequence datasets.

Proper citation: READSCAN (RRID:SCR_005204) Copy   

•   Source: SciCrunch Registry

http://odin.mdacc.tmc.edu/~xsu1/VirusSeq.html

An algorithmic software tool for detecting known viruses and their integration sites using next-generation sequencing of human cancer tissue. VirusSeq takes FASTQ files (paired-end reads) as input.

Proper citation: VirusSeq (RRID:SCR_005206) Copy   

•   Source: SciCrunch Registry

http://smithlab.usc.edu/methpipe/

A computational pipeline for analyzing bisulfite sequencing data.

Proper citation: MethPipe (RRID:SCR_005168) Copy   

•   Source: SciCrunch Registry

http://sourceforge.net/projects/hivcd/

Informatics software tool to identify patient sequences that are too similar to happen by chance alone. Highly similar sequences are likely to occur from contamination or other situations like geographic linkage.

Proper citation: HIVCD (RRID:SCR_005201) Copy   

•   Source: SciCrunch Registry

http://sourceforge.net/projects/asoovir/

A set of Ruby modules to annotate consequence terms, defined by the Sequence Ontology, of variants (SNP/SNVs, INDELs, SVs, CNAs) using Ensembl gene sets. Prior to annotation of variants an Ensembl gene set and reference coding sequences are loaded into memory from a database file, which can be downloaded or generated by the user from reference files. This allows rapid annotation of variants, making it suitable for annotation of whole genome scale calls. Annotation is performed on a transcript level basis, identifying associated sequence ontology terms for affected and nearby transcripts. Default output can be obtained on a gene basis, summarising the consequences for each gene affected, or on a transcript level basis. Output information is also readily customisable using user-generated scripts.

Proper citation: ASOoViR (RRID:SCR_005161) Copy   

•   Source: SciCrunch Registry

http://archive.gersteinlab.org/proj/rnaseq/IQSeq/

Software for integrated Isoform Quanti?cation Analysis based on A Partial Sampling Framework.

Proper citation: IQSeq (RRID:SCR_005238) Copy   

•   Source: SciCrunch Registry