<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/30355?offset=160 https://bioinformaticsonline.com/bookmarks/view/29917/gojs Tue, 22 Nov 2016 08:25:37 -0600 https://bioinformaticsonline.com/bookmarks/view/29917/gojs <![CDATA[GoJS]]> GoJS is a feature-rich JavaScript library for implementing custom interactive diagrams and complex visualizations across modern web browsers and platforms. GoJS makes constructing JavaScript diagrams of complex nodes, links, and groups easy with customizable templates and layouts.

GoJS offers many advanced features for user interactivity such as drag-and-drop, copy-and-paste, in-place text editing, tooltips, context menus, automatic layouts, templates, data binding and models, transactional state and undo management, palettes, overviews, event handlers, commands, and an extensible tool system for custom operations.

GoJS is pure JavaScript, so users get interactivity without requiring round-trips to servers and without plugins. GoJS normally runs completely in the browser, rendering to an HTML5 Canvas element or SVG without any server-side requirements. GoJS does not depend on any JavaScript libraries or frameworks, so it should work with any HTML or JavaScript framework or with no framework at all.          

More at http://gojs.net/latest/index.html

Address of the bookmark: http://gojs.net/latest/index.html

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30074/minia Thu, 08 Dec 2016 05:07:00 -0600 https://bioinformaticsonline.com/bookmarks/view/30074/minia <![CDATA[Minia]]> Minia is a short-read assembler based on a de Bruijn graph, capable of assembling a human genome on a desktop computer in a day. The output of Minia is a set of contigs. Minia produces results of similar contiguity and accuracy to other de Bruijn assemblers (e.g. Velvet).

Download

Minia 2.0.7 Linux 64-bits binaries (Source code) (Legacy codebase)

For the impatient

A typical Minia command line looks like:

./minia -in reads.fa -kmer-size 31 -abundance-min 3 -out output_prefix

Type

./minia

for a quick explanation of the parameters.

For more information, refer to the manual.

KmerGenie can be used to determine the best k-mer size, minimum abundance of correct k-mers, and genome size estimation for your dataset.

 

Address of the bookmark: http://minia.genouest.org/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30093/velvet-tutorial Fri, 09 Dec 2016 04:19:07 -0600 https://bioinformaticsonline.com/bookmarks/view/30093/velvet-tutorial <![CDATA[Velvet tutorial]]> The objective of this activity is to help you understand how to run Velvet in general, how to accurately estimate the insert size of a paired-end library through the use of Bowtie, the primary parameters of velvet, and the process involved in producing a de novo assembly from Illumina reads.

http://evomics.org/learning/assembly-and-alignment/velvet/

Address of the bookmark: http://evomics.org/learning/assembly-and-alignment/velvet/

]]> Poonam Mahapatra https://bioinformaticsonline.com/bookmarks/view/30153/e-mem-efficient-computation-of-maximal-exact-matches Thu, 15 Dec 2016 09:30:43 -0600 https://bioinformaticsonline.com/bookmarks/view/30153/e-mem-efficient-computation-of-maximal-exact-matches <![CDATA[E-MEM: Efficient computation of Maximal Exact Matches]]> E-MEM is a C++/OpenMP program designed to efficiently compute MEMs between large genomes. See the README file for instructions on how to use E-MEM. 

E-MEM source code

The source code can be downloaded here. 

If you use E-MEM, please cite:

  • N. Khiste, L. Ilie, E-MEM: Efficient computation of Maximal Exact Matches for very large genomes, Bioinformatics 31(4) (2015) 509 -- 514.

For any questions, please contact Lucian Ilie: ilie@uwo.ca 

Address of the bookmark: http://www.csd.uwo.ca/~ilie/E-MEM/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30212/pear Mon, 19 Dec 2016 09:28:30 -0600 https://bioinformaticsonline.com/bookmarks/view/30212/pear <![CDATA[PEAR]]> PEAR is an ultrafast, memory-efficient and highly accurate pair-end read merger. It is fully parallelized and can run with as low as just a few kilobytes of memory.

PEAR evaluates all possible paired-end read overlaps and without requiring the target fragment size as input. In addition, it implements a statistical test for minimizing false-positive results. Together with a highly optimized implementation, it can merge millions of paired end reads within a couple of minutes on a standard desktop computer.

Address of the bookmark: http://sco.h-its.org/exelixis/web/software/pear/doc.html

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30304/mcscan Thu, 22 Dec 2016 03:53:58 -0600 https://bioinformaticsonline.com/bookmarks/view/30304/mcscan <![CDATA[MCscan]]> MCscan is a computer program that can simultaneously scan multiple genomes to identify homologous chromosomal regions and subsequently align these regions using genes as anchors. This is the toolset for generating the synteny correspondences in Plant Genome Duplication Database. It is intended as an easy-to-use and quick way to identify conserved gene arrays both within the same genome and across different genomes.

More at http://chibba.agtec.uga.edu/duplication/mcscan/

Address of the bookmark: http://chibba.agtec.uga.edu/duplication/mcscan/

]]> Bulbul https://bioinformaticsonline.com/blog/view/31566/software-and-tools-to-detect-structure-variation-with-long-reads Wed, 15 Mar 2017 14:31:09 -0500 https://bioinformaticsonline.com/blog/view/31566/software-and-tools-to-detect-structure-variation-with-long-reads <![CDATA[Software and Tools to detect structure variation with long reads !!]]> Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs detectable by short-read data.

With Single Molecule, Real-Time (SMRT) Sequencing, you can access structural variations having a broad range of sizes, types, and GC content with the ability to:

  • Uncover missing heritability linked to structural variation
  • Unambiguously identify genomic context and variant breakpoints at the sequence level to unravel the genetic etiology of disease
  • Resolve structural variation across the complete size spectrum with basepair resolution

Following are the SV tools, which can assist you to achieve your goal.

Sniffles: Structural variation caller using third generation sequencing

Sniffles is a structural variation caller using third generation sequencing (PacBio or Oxford Nanopore). It detects all types of SVs using evidence from split-read alignments, high-mismatch regions, and coverage analysis. Please note the current version of Sniffles requires sorted output from BWA-MEM (use -M and -x parameter) or NGM-LR with the optional SAM attributes enabled! 

More at https://github.com/fritzsedlazeck/Sniffles


MultiBreak-SV: It identifies structural variants from next-generation paired end data, third-generation long read data, or data from a combination of sequencing platforms.

There are two pieces of software in this release: (1) a pre-processor that takes machineformat (.m5) BLASR files, and (2) MultiBreak-SV. For installation and usage instructions, see doc/MultiBreakSV-Manual.txt.

More at https://github.com/raphael-group/multibreak-sv


Parliament: A Structural Variation Tool. Why ask a single sv-detection approach to find every variant when you can have a parliament of tools deciding?

Publication about the algorithm and “…the first long-read characterization of structural variation in a diploid human personal genome…” (HS1011) - “Assessing structural variation in a personal genome—towards a human reference diploid genome”

More at https://sourceforge.net/projects/parliamentsv/

https://www.dnanexus.com/papers/Parliament_Info_Sheet.pdf


PBHoney: the structural variation discovery tool 

PBHoney is an implementation of two variant-identification approaches designed to exploit the high mappability of long reads (i.e., greater than 10,000 bp). PBHoney considers both intra-read discordance and soft-clipped tails of long reads to identify structural variants.

Read The Paper http://www.biomedcentral.com/1471-2105/15/180/abstract

More at https://sourceforge.net/projects/pb-jelly/


SMRT-SV: Structural variant and indel caller for PacBio reads

Structural variant (SV) and indel caller for PacBio reads based on methods from Chaisson et al. 2014.

SMRT-SV provides an official software package for tools described in Chaisson et al. 2014 and adds several key features including the following.

  • Unified variant calling user interface with built-in cluster compute support
  • Small indel calling (2-49 bp)
  • Improved inversion calling (screenInversions)
  • Quality metric for SV calls based on number of local assemblies supporting each call
  • Higher sensitivity for SV calls using tiled local assemblies across the entire genome instead of "signature" regions
  • Genotyping of SVs with Illumina paired-end reads from WGS samples

More at https://github.com/EichlerLab/pacbio_variant_caller

]]> Archana Malhotra https://bioinformaticsonline.com/bookmarks/view/30540/progressive-cactus Tue, 17 Jan 2017 03:40:06 -0600 https://bioinformaticsonline.com/bookmarks/view/30540/progressive-cactus <![CDATA[Progressive Cactus]]> v0.0 by Glenn Hickey (hickey@soe.ucsc.edu)

Progressive Cactus is a whole-genome alignment package.

Requirements

  • git
  • gcc 4.2 or newer
  • python 2.7
  • wget
  • 64bit processor and build environment
  • 150GB+ of memory on at least one machine when aligning mammal-sized genomes; less memory is needed for smaller genomes.
  • Parasol or SGE for cluster support.
  • 750M disk space

Instructions

IMPORTANT NOTE: Progressive Cactus does not presently support installation into paths that contain spaces. Until this is resolved, you can use a softlink as a workaround: ln -s "path with spaces" "installation path without spaces"

In the parent directory of where you want Progressive Cactus installed:

git clone git://github.com/glennhickey/progressiveCactus.git
cd progressiveCactus
git pull
git submodule update --init
make

It is also convenient to add the location of progressiveCactus/bin to your PATH environment variable. In order to run the included tools (ex hal2maf) in the submodules/ directory structure, first source progressiveCactus/environment to load the installed environment.

If any errors occur during the build process, you are unlikely to be able to use the tool. Please submit a GitHub issue so we can help out: not only will you help yourself, but others who wish to use the tool as well.

Note that all dependencies are also built and included in the submodules/ directory. This increases the size and build time but greatly simplifies installation and version management. The installation does not create or modify any files outside the progressiveCactus/ directory.

Address of the bookmark: https://github.com/glennhickey/progressiveCactus

]]> Jit https://bioinformaticsonline.com/bookmarks/view/30833/dnasp-v5-a-software-for-comprehensive-analysis-of-dna-polymorphism-data Mon, 06 Feb 2017 04:45:37 -0600 https://bioinformaticsonline.com/bookmarks/view/30833/dnasp-v5-a-software-for-comprehensive-analysis-of-dna-polymorphism-data <![CDATA[DnaSP v5: a software for comprehensive analysis of DNA polymorphism data]]> DnaSP is a software package for a comprehensive analysis of DNA polymorphism data. Version 5 implements a number of new features and analytical methods allowing extensive DNA polymorphism analyses on large datasets. Among other features, the newly implemented methods allow for: (i) analyses on multiple data files; (ii) haplotype phasing; (iii) analyses on insertion/deletion polymorphism data; (iv) visualizing sliding window results integrated with available genome annotations in the UCSC browser.

Address of the bookmark: http://www.ub.edu/dnasp/

]]> Jit https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2 Mon, 10 Apr 2017 04:45:40 -0500 https://bioinformaticsonline.com/bookmarks/view/32131/wgs-celera-assembler-version-83rc2 <![CDATA[WGS Celera Assembler version 8.3rc2]]> These are release notes for Celera Assembler version 8.3rc2, which was released on May 24, 2015.

This distribution package provides a stable, tested, documented version of the software.  The distribution is usable on most Unix-like platforms, and some platforms have pre-compiled binary distributions ready for installation.

The source code package includes full source code (revision 4627), Makefiles, and scripts.  A subset of the kmer package (http://kmer.sourceforge.net/, version r1994), used by some modules of Celera Assembler, is included.  This distribution includes [http://samtools.sourceforge.net/ SAMtools], [http://www.cbcb.umd.edu/software/jellyfish/ Jellyfish 2.0], [https://github.com/pbjd/pbutgcns PBUTGCNS], [https://github.com/PacificBiosciences/pbdagcon PBDAGCON], [https://github.com/PacificBiosciences/BLASR BLASR], and parts of the [https://github.com/PacificBiosciences/FALCON/tree/v0.1.3 Falcon assembler].

Full documentation can be found online at http://wgs-assembler.sourceforge.net/.

Interesting scripts within it

urbe@urbo214b[bin] ls                                                        []
-rwxrwxr-x 1 urbe urbe  11K Apr 10 11:41 addCNSToStore
-rwxrwxr-x 1 urbe urbe 575K Apr 10 11:41 addReadsToUnitigs
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-rwxrwxr-x 1 urbe urbe 257K Apr 10 11:41 analyzePosMap
-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 analyzeScaffolds
-rwxrwxr-x 1 urbe urbe 224K Apr 10 11:41 asmOutputFasta
-rwxrwxr-x 1 urbe urbe 448K Apr 10 11:41 asmOutputStatistics
-rwxrwxr-x 1 urbe urbe 2,4K Apr 10 11:41 asmToAGP.pl
-rwxrwxr-x 1 urbe urbe 7,6M Apr 10 11:41 blasr
-rwxrwxr-x 1 urbe urbe 1,6M Apr 10 11:41 bogart
-rwxrwxr-x 1 urbe urbe 183K Apr 10 11:41 bogus
-rwxrwxr-x 1 urbe urbe 272K Apr 10 11:41 bogusness
-rwxrwxr-x 1 urbe urbe 247K Apr 10 11:41 buildPosMap
-rwxrwxr-x 1 urbe urbe 213K Apr 10 11:41 buildRefContigs
-rwxrwxr-x 1 urbe urbe 990K Apr 10 11:41 buildUnitigs
-rwxrwxr-x 1 urbe urbe  18K Apr 10 11:41 ca2ace.pl
-rwxrwxr-x 1 urbe urbe  12K Apr 10 11:41 caqc_help.ini
-rwxrwxr-x 1 urbe urbe  61K Apr 10 11:41 caqc.pl
-rwxrwxr-x 1 urbe urbe  23K Apr 10 11:41 cat-corrects
-rwxrwxr-x 1 urbe urbe  24K Apr 10 11:41 cat-erates
-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 cgw
-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 cgwDump
-rwxrwxr-x 1 urbe urbe 204K Apr 10 11:41 chimChe
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 chimera
-rwxrwxr-x 1 urbe urbe 220K Apr 10 11:41 classifyMates
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:41 classifyMatesApply
-rwxrwxr-x 1 urbe urbe 215K Apr 10 11:41 classifyMatesPairwise
-rwxrwxr-x 1 urbe urbe 366K Apr 10 11:41 computeCoverageStat
-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 convert-fasta-to-v2.pl
-rwxrwxr-x 1 urbe urbe  48K Apr 10 11:41 convertOverlap
-rwxrwxr-x 1 urbe urbe 119K Apr 10 11:41 convertSamToCA
-rwxrwxr-x 1 urbe urbe  20K Apr 10 11:41 convertToPBCNS
-rwxrwxr-x 1 urbe urbe 197K Apr 10 11:41 correct-frags
-rwxrwxr-x 1 urbe urbe 259K Apr 10 11:41 correct-olaps
-rwxrwxr-x 1 urbe urbe 520K Apr 10 11:41 correctPacBio
-rwxrwxr-x 1 urbe urbe 540K Apr 10 11:41 ctgcns
-rwxrwxr-x 1 urbe urbe 162K Apr 10 11:40 deduplicate
-rwxrwxr-x 1 urbe urbe  37K Apr 10 11:41 demotePosMap
-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 dumpCloneMiddles
-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:41 dumpPBRLayoutStore
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 dumpSingletons
-rwxrwxr-x 1 urbe urbe 171K Apr 10 11:41 erate-estimate
-rwxrwxr-x 1 urbe urbe 221K Apr 10 11:40 estimate-mer-threshold
-rwxrwxr-x 1 urbe urbe 1,5M Apr 10 11:41 extendClearRanges
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 extendClearRangesPartition
-rwxrwxr-x 1 urbe urbe 205K Apr 10 11:40 extractmessages
-rwxrwxr-x 1 urbe urbe 7,2M Apr 10 11:41 falcon_sense
-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 fastaToCA
-rwxrwxr-x 1 urbe urbe 124K Apr 10 11:40 fastqAnalyze
-rwxrwxr-x 1 urbe urbe 137K Apr 10 11:40 fastqSample
-rwxrwxr-x 1 urbe urbe  62K Apr 10 11:40 fastqSimulate
-rwxrwxr-x 1 urbe urbe 121K Apr 10 11:40 fastqSimulate-sort
-rwxrwxr-x 1 urbe urbe 246K Apr 10 11:40 fastqToCA
-rwxrwxr-x 1 urbe urbe 140K Apr 10 11:41 filterOverlap
-rwxrwxr-x 1 urbe urbe 341K Apr 10 11:40 finalTrim
-rwxrwxr-x 1 urbe urbe 228K Apr 10 11:41 fixUnitigs
-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 fragmentDepth
-rwxrwxr-x 1 urbe urbe  29K Apr 10 11:41 fragsInVars
-rwxrwxr-x 1 urbe urbe 545K Apr 10 11:41 frgs2clones
-rwxrwxr-x 1 urbe urbe 398K Apr 10 11:40 gatekeeper
-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:40 gatekeeperbench
-rwxrwxr-x 1 urbe urbe 167K Apr 10 11:40 gkpStoreCreate
-rwxrwxr-x 1 urbe urbe 147K Apr 10 11:40 gkpStoreDumpFASTQ
-rwxrwxr-x 1 urbe urbe 184K Apr 10 11:41 greedyFragmentTiling
-rwxrwxr-x 1 urbe urbe 1,6K Apr 10 11:41 greedy_layout_to_IUM
-rwxrwxr-x 1 urbe urbe 142K Apr 10 11:40 initialTrim
-rwxrwxr-x 1 urbe urbe 967K Apr 10 11:41 jellyfish
-rwxrwxr-x 1 urbe urbe 219K Apr 10 11:41 markRepeatUnique
-rwxrwxr-x 1 urbe urbe 273K Apr 10 11:40 markUniqueUnique
-rwxrwxr-x 1 urbe urbe 114K Apr 10 11:40 mercy
-rwxrwxr-x 1 urbe urbe 3,8K Apr 10 11:41 mergeqc.pl
-rwxrwxr-x 1 urbe urbe 422K Apr 10 11:40 merTrim
-rwxrwxr-x 1 urbe urbe 125K Apr 10 11:40 merTrimApply
-rwxrwxr-x 1 urbe urbe 376K Apr 10 11:40 meryl
-rwxrwxr-x 1 urbe urbe 176K Apr 10 11:41 metagenomics_ovl_analyses
-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:41 olap-from-seeds
-rwxrwxr-x 1 urbe urbe 275K Apr 10 11:41 outputLayout
-rwxrwxr-x 1 urbe urbe 229K Apr 10 11:41 overlapInCore
-rwxrwxr-x 1 urbe urbe 144K Apr 10 11:40 overlap_partition
-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStats
-rwxrwxr-x 1 urbe urbe 179K Apr 10 11:41 overlapStore
-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:41 overlapStoreBucketizer
-rwxrwxr-x 1 urbe urbe 175K Apr 10 11:41 overlapStoreBuild
-rwxrwxr-x 1 urbe urbe  33K Apr 10 11:41 overlapStoreIndexer
-rwxrwxr-x 1 urbe urbe  48K Apr 10 11:41 overlapStoreSorter
-rwxrwxr-x 1 urbe urbe 604K Apr 10 11:40 overmerry
lrwxrwxrwx 1 urbe urbe    4 Apr 10 11:41 pacBioToCA -> PBcR
-rwxrwxr-x 1 urbe urbe 131K Apr 10 11:41 PBcR
-rwxrwxr-x 1 urbe urbe 2,9M Apr 10 11:41 pbdagcon
-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 pbutgcns
-rwxrwxr-x 1 urbe urbe 201K Apr 10 11:40 remove_fragment
-rwxrwxr-x 1 urbe urbe 153K Apr 10 11:40 removeMateOverlap
-rwxrwxr-x 1 urbe urbe 2,5K Apr 10 11:41 replaceUIDwithName-fastq
-rwxrwxr-x 1 urbe urbe 1,2K Apr 10 11:41 replaceUIDwithName-posmap
-rwxrwxr-x 1 urbe urbe 1,3M Apr 10 11:41 resolveSurrogates
-rwxrwxr-x 1 urbe urbe 139K Apr 10 11:41 rewriteCache
-rwxrwxr-x 1 urbe urbe 232K Apr 10 11:41 runCA
-rwxrwxr-x 1 urbe urbe  88K Apr 10 11:41 runCA-dedupe
-rwxrwxr-x 1 urbe urbe  14K Apr 10 11:41 runCA-overlapStoreBuild
-rwxrwxr-x 1 urbe urbe 3,6K Apr 10 11:41 run_greedy.csh
-rwxrwxr-x 1 urbe urbe 297K Apr 10 11:40 sffToCA
-rwxrwxr-x 1 urbe urbe  13K Apr 10 11:40 show-corrects
-rwxrwxr-x 1 urbe urbe 557K Apr 10 11:41 splitUnitigs
-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 terminator
drwxrwxr-x 2 urbe urbe 4,0K Apr 10 11:41 TIGR
-rwxrwxr-x 1 urbe urbe 526K Apr 10 11:41 tigStore
-rwxrwxr-x 1 urbe urbe  35K Apr 10 11:41 tracearchiveToCA
-rwxrwxr-x 1 urbe urbe  35K Apr 10 11:41 tracedb-to-frg.pl
-rwxrwxr-x 1 urbe urbe  44K Apr 10 11:41 trimFastqByQVWindow
-rwxrwxr-x 1 urbe urbe  18K Apr 10 11:40 uidclient
-rwxrwxr-x 1 urbe urbe 589K Apr 10 11:41 unitigger
-rwxrwxr-x 1 urbe urbe  42K Apr 10 11:40 upgrade-v8-to-v9
-rwxrwxr-x 1 urbe urbe  42K Apr 10 11:40 upgrade-v9-to-v10
-rwxrwxr-x 1 urbe urbe  854 Apr 10 11:41 utg2fasta
-rwxrwxr-x 1 urbe urbe 731K Apr 10 11:41 utgcns
-rwxrwxr-x 1 urbe urbe 561K Apr 10 11:41 utgcnsfix


Address of the bookmark: http://wgs-assembler.sourceforge.net/wiki/index.php/Main_Page

]]> Jit