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http://www.broadinstitute.org/science/programs/genome-biology/computational-rd/vaal-manual
A polymorphism discovery algorithm for short reads. To run it, you provide reads (and quality scores) from a "sample genome" as input, along with a vector sequence to trim from the reads, and a reference sequence for a related genome to compare to. VAAL produces as output a an assembly for the sample genome, together with a mask showing which bases are "trusted". It then deduces from that a list of differences between the sample and related genomes. Alternatively, it can be provided as input read data for two sample genomes, together with a reference sequence for a related genome. In this case, VAAL produces assemblies for each of the sample genomes, and compares them to each other, thereby deducing a list of differences between them. VAAL has been tested on bacteria, using single lanes of 36 bp unpaired reads from the Illumina platform. Note: This software package is no longer supported and information on this page is provided for archival purposes only.
Proper citation: VAAL (RRID:SCR_001184) Copy
http://bionimbus.opensciencedatacloud.org/
A cloud-based infrastructure for managing, analyzing and sharing genomics datasets.
Proper citation: Bionimbus (RRID:SCR_001189) Copy
http://www.bioconductor.org/packages/release/bioc/html/RCASPAR.html
Software package for survival time prediction based on a piecewise baseline hazard Cox regression model. It is meant to help predict survival times in the presence of high-dimensional explanatory covariates.
Proper citation: RCASPAR (RRID:SCR_001253) Copy
http://www.bioconductor.org/packages/release/bioc/html/CNVtools.html
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software package to facilitate the testing of Copy Number Variant data for genetic association, typically in case-control studies.
Proper citation: CNVtools (RRID:SCR_001250) Copy
http://med.stanford.edu/tanglab/software/saber.html
Software program suitable for genome-scale data which uses a Markov-hidden Markov model (MHMM) to estimate local ancestry. The MHMM makes it possible to identify genomic blocks of a particular ancestry by use of any high-density single-nucleotide-polymorphism panel. One application is to perform admixture mapping without genotyping special ancestry-informative-marker panels.
Proper citation: SABER (RRID:SCR_001257) Copy
http://www.bioconductor.org/packages/release/bioc/html/multtest.html
Software package for non-parametric bootstrap and permutation resampling-based multiple testing procedures (including empirical Bayes methods) for controlling the family-wise error rate (FWER), generalized family-wise error rate (gFWER), tail probability of the proportion of false positives (TPPFP), and false discovery rate (FDR). Several choices of bootstrap-based null distribution are implemented (centered, centered and scaled, quantile-transformed). Single-step and step-wise methods are available. Tests based on a variety of t- and F-statistics (including t-statistics based on regression parameters from linear and survival models as well as those based on correlation parameters) are included. When probing hypotheses with t-statistics, users may also select a potentially faster null distribution which is multivariate normal with mean zero and variance covariance matrix derived from the vector influence function. Results are reported in terms of adjusted p-values, confidence regions and test statistic cutoffs. The procedures are directly applicable to identifying differentially expressed genes in DNA microarray experiments.
Proper citation: multtest (RRID:SCR_001255) Copy
https://github.com/pmelsted/BFCounter
Software program for counting k-mers in DNA sequence data. It identifies all the k-mers that occur more than once in a DNA sequence data set using a Bloom filter, a probabilistic data structure that stores all the observed k-mers implicitly in memory with greatly reduced memory requirements.
Proper citation: BFCounter (RRID:SCR_001248) Copy
https://github.com/grenaud/freeIbis
A software basecaller for Illumina sequencers with calibrated quality scores.
Proper citation: freeIbis (RRID:SCR_001241) Copy
http://www.zbh.uni-hamburg.de/?id=211
A collection of flexible and memory-efficient software programs for k-mer counting and indexing of large sequence sets. It is based on enhanced suffix arrays which gives a much larger flexibility concerning the choice of the k-mer size. It can process large data sizes of several billion bases.
Proper citation: TALLYMER (RRID:SCR_001244) Copy
http://www.ebi.ac.uk/~stijn/reaper/tally.html
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software program for deduplicating sequence fragments. It minimises memory usage by compressing sequences and using compact memory allocation techniques. A built-in parser allows a variety of input file formats and a simple specification language allows flexible output file formats. It can be made aware of paired-end reads, and it can handle degenerate sequence inserts intended to reveal amplification biases. Tally comes with reaper, a program for demultiplexing, trimming and filtering short read sequencing data.
Proper citation: Tally (RRID:SCR_001239) Copy
http://www.bioconductor.org/packages/release/bioc/html/ITALICS.html
Software package to normalize of Affymetrix GeneChip Human Mapping 100K and 500K set.
Proper citation: ITALICS (RRID:SCR_001274) Copy
http://www.bioconductor.org/packages/2.14/bioc/html/mBPCR.html
Software package that estimates the DNA copy number profile to detect regions with copy number changes.
Proper citation: mBPCR (RRID:SCR_001273) Copy
http://www.bioconductor.org/packages/devel/bioc/html/CGHregions.html
Software package for dimension Reduction for Array CGH Data with Minimal Information Loss.
Proper citation: CGHregions (RRID:SCR_001278) Copy
http://bioconductor.org/packages/release/bioc/html/quantsmooth.html
Software package for quantile smoothing and genomic visualization of array data.
Proper citation: quantsmooth (RRID:SCR_001271) Copy
http://www.bioconductor.org/packages/2.0/bioc/html/SNPchip.html
Software package that contains classes and methods useful for storing, visualizing and analyzing high density SNP data. Originally developed from the SNPscan web-tool, SNPchip utilizes S4 classes and extends other open source R tools available at Bioconductor, including the R packages Biobase and oligo. This has numerous advantages, including the ability to build statistical models for SNP-level data that operate on instances of the class, and to communicate with other R packages that add additional functionality.
Proper citation: SNPchip (RRID:SCR_001269) Copy
http://www.genetics.ucla.edu/software/admixture/
A software tool for maximum likelihood estimation of individual ancestries from multilocus SNP genotype datasets. It uses the same statistical model as STRUCTURE but calculates estimates much more rapidly using a fast numerical optimization algorithm. It uses a block relaxation approach to alternately update allele frequency and ancestry fraction parameters. Each block update is handled by solving a large number of independent convex optimization problems, which are tackled using a fast sequential quadratic programming algorithm. Convergence of the algorithm is accelerated using a novel quasi-Newton acceleration method.
Proper citation: ADMIXTURE (RRID:SCR_001263) Copy
http://med.stanford.edu/tanglab/software/frappe.html
Software using a f frequentist approach for estimating individual ancestry proportion.
Proper citation: frappe (RRID:SCR_001264) Copy
http://www4a.biotec.or.th/GI/tools/ippca
Software implementing a population structure analysis algorithm which assigns individuals to subpopulations and infers the total number of subpopulations present. Additional functions have been included that result in improved population assignment accuracy. # Universal genotype data encoding scheme which allows the population analysis of all types of genetic markers; Single Nucleotide Polymorphism (SNP), Short Tandem Repeat (STR) and RFLP. # New termination criterion called ?EigenDev? which is more robust to population sampling, thus provides the better estimation of number of assigned subpopulations (K) and higher accuracy for the analysis of large complex population datasets.
Proper citation: ipPCA (RRID:SCR_001262) Copy
http://www.bioconductor.org/packages/devel/bioc/html/VegaMC.html
Software package that enables the detection of driver chromosomal imbalances including loss of heterozygosity (LOH) from array comparative genomic hybridization (aCGH) data. It performs a joint segmentation of a dataset and uses a statistical framework to distinguish between driver and passenger mutation. VegaMC has been implemented so that it can be immediately integrated with the output produced by PennCNV tool. In addition, it produces in output two web pages that allows a rapid navigation between both the detected regions and the altered genes. In the web page that summarizes the altered genes, the link to the respective Ensembl gene web page is reported.
Proper citation: VegaMC (RRID:SCR_001267) Copy
http://www.bioconductor.org/packages/2.1/bioc/html/VanillaICE.html
Software package using Hidden Markov Models for characterizing chromosomal alterations in high throughput SNP arrays.
Proper citation: VanillaICE (RRID:SCR_001268) Copy
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