Note that since the original publication, we have made significant changes to OPERA (v1.0 onwards) including refinements to its basic algorithm (to reduce local errors, improve efficiency etc.) and incorporated features that are important for scaffolding large genomes (multi-library support, better repeat-handling etc.), in addition to other scalability and usability improvements (bam and gzip support, smaller memory footprint). We therefore encourage you to download and use our latest version: OPERA-LG. In our benchmarks, it has significantly improved corrected N50 and reduced the number of scaffolding errors. Furthermore, our latest release contains the wrapper script OPERA-long-read that enables scaffolding with long-reads from third-generation sequencing technologies (PacBio or Oxford Nanopore). The manuscript describing the new features and algorithms is available at Genome Biology. We look forward to getting your feedback to improve it further.

Address of the bookmark: https://sourceforge.net/p/operasf/wiki/The%20OPERA%20wiki/

Address of the bookmark: http://decipher.cee.wisc.edu/Documentation.html

Address of the bookmark: http://www.bioconductor.org/packages/release/bioc/html/GeneBreak.html

Targeted bait capture is a technique for sequencing many loci simultaneously based on bait sequences. HybPiper pipeline starts with high-throughput sequencing reads (for example from Illumina MiSeq), and assigns them to target genes using BLASTx or BWA. The reads are distributed to separate directories, where they are assembled separately using SPAdes. The main output is a FASTA file of the (in frame) CDS portion of the sample for each target region, and a separate file with the translated protein sequence.

HybPiper also includes post-processing scripts, run after the main pipeline, to also extract the intronic regions flanking each exon, investigate putative paralogs, and calculate sequencing depth. For more information, please see our wiki.

HybPiper is run separately for each sample (single or paired-end sequence reads). When HybPiper generates sequence files from the reads, it does so in a standardized directory hierarchy. Many of the post-processing scripts rely on this directory hierarchy, so do not modify it after running the initial pipeline. It is a good idea to run the pipeline for each sample from the same directory. You will end up with one directory per run of HybPiper, and some of the later scripts take advantage of this predictable directory structure.

Address of the bookmark: https://github.com/mossmatters/HybPiper

Structural variants (SVs) such as deletions, insertions, duplications, inversions and translocations litter genomes and are often associated with gene expression changes and severe phenotypes (ie. genetic diseases in humans). Recent studies on the functional aspects of different types of SVs have unveiled several cases of adaptive evolution. For example, inversions have been associated with ecological adaptations and may facilitate speciation. Due to their prevalent nature, SVs arguably have a large impact on genome evolution and should not be neglected when studying the genetics of adaptation and speciation. SVs were classically defined as chromosomal rearrangements larger than 1kb, but due to a higher resolution of new detection methods, smaller variants (between 50 and 1000 base pairs) can now be accurately assessed. Besides various methods of detection in next generation sequencing data (paired end mapping, split reads, and depth of coverage), array-based approaches have proven to be particularly useful for detecting copy number variations (CNVs). These technologies have enabled researchers to catalog a wide spectrum of SVs in many organisms and infer the effects of selection shaping their evolutionary trajectories.

Structure variation sequencing signature (Source: NatRev Genetics)

Related tools, databases and publications are listed below. If you know any interesing papers, please let us know in comment section:

Key concepts

Structural variation includes balanced variants such as inversions and translocations, and unbalanced ones such as duplications and deletions (copy number variations or CNVs).

Structural variants can arise by several mechanisms, including nonallelic homologous recombination (NAHR), nonhomologous end‐joining (NHEJ) and DNA replication‐based fork stalling and template switching (FoSTeS).

CNV is closely linked to segmental duplication, but is not exactly the same. Segmental duplications can stimulate CNV formation by NAHR, and themselves arise from CNVs that have become fixed.

Segmental duplications did not appear uniformly during the evolution of the Great Ape species, but rather during a burst of activity around the time of the divergence of gorilla from the human/chimpanzee ancestor.

Duplicated genes play a critical role in the evolution of a genome as they act as ‘spare parts’ than can evolve to perform new or more specialized functions.

Effects of structural variation on gene expression can be identified but only a few examples of the consequences for species biology have been documented.

Tools

CNVnatora tool for CNV discovery and genotyping from depth of read mapping.2011a,2011b

AGEa tools that implements an algorithm for optimal alignment of sequences with SVs.2011

BreakSeqa pipeline for annotation, classification and analysis of SVs at single nucleotide resolution.2010

PEMera computational and simulation framework for discovering SVs by paired-end read mapping.2009,2007

GASV https://code.google.com/archive/p/gasv/

PAIROSCOPE http://pairoscope.sourceforge.net/

SVDetect http://svdetect.sourceforge.net/Site/Home.html

BreakPtr, discovery of unbalanced structural variants (copy-number variants) with tiling microarrays Link 

R Package https://www.bioconductor.org/help/course-materials/2010/EMBL2010/Practical-4-StructuralVariants.pdf

BreakSeq, structural variant genotyping using split reads Link 

CopySeq, genotyping of unbalanced structural variants (copy-number variants) using read-depth Link 

DELLY2, integrated structural variant discovery, genotyping and visualization in deep sequencing data Link 

PEMer, structural variant discovery in 454 sequencing data by paired-end mapping Link 

TIGER, transduction inference in germline genomes using short read data Link 

MANTA https://github.com/Illumina/manta

SV-Bay https://github.com/InstitutCurie/SV-Bay

BreakDancer http://breakdancer.sourceforge.net/

Variation Hunter http://compbio.cs.sfu.ca/software-variation-hunter

Lumpy https://github.com/arq5x/lumpy-sv

ForestSV http://sebatlab.ucsd.edu/index.php/software-data 

PBSuites for long reads https://sourceforge.net/projects/pb-jelly/

Visualization

The SV visualization tool: http://genomesavant.com/savant/

InGAP-SV (http://ingap.sourceforge.net/) that is nice tools for both detection and visualisation of severals kind of structural variations (Large insertions, translocation, deletion, inversions....) 

Tools table: http://www.nature.com/nbt/journal/v29/n8/fig_tab/nbt.1904_T2.html

Variation Viewer https://www.ncbi.nlm.nih.gov/variation/view/

Papers

http://www.nature.com/nmeth/journal/v9/n2/full/nmeth.1858.html

http://journal.frontiersin.org/researchtopic/1412/structural-variations-in-genomes-ecological-and-evolutionary-implications

http://www.mi.fu-berlin.de/wiki/pub/ABI/GenomicsLecture10Materials/structural-variation.pdf

http://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-015-1479-3

https://www.ncbi.nlm.nih.gov/dbvar/content/overview/

http://www.nature.com/subjects/structural-variation

https://eichlerlab.gs.washington.edu/news/NatMeth_Feb2012.pdf

https://www.ncbi.nlm.nih.gov/pubmed/19477992 ***

https://www.ncbi.nlm.nih.gov/pubmed/22452995

http://biorxiv.org/content/early/2016/09/06/073833

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479793/

http://www.nature.com/articles/srep18501

http://www.genetics.org/content/202/1/351

http://www.cs.cmu.edu/~sssykim/teaching/s13/slides/Lecture_SVI.pdf

https://www.omicsonline.org/open-access/structural-variation-detection-from-next-generation-sequencing-2469-9853-S1-007.php?aid=69055

http://schatzlab.cshl.edu/presentations/2016/2016.01.12.PAG.Structural%20Variations.pdf

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/

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

To use CLgenomics, individual genome data (genome sequences + annotation details) are compiled and saved in a specially formatted file called CLG (ChunLab Genomics). Each CLG file corresponds with one bacterial genome. If multiple genomes are being considered and compared, multiple CLG files are needed. ChunLab offers >40,000 CLG files of publicly available Bacterial and Archaeal genomes.

Address of the bookmark: https://chunlab.wordpress.com/clgenomics-software/

Address of the bookmark: http://pbil.univ-lyon1.fr/software/DeCoSTAR/

Following are the list of journals publishing pint-sized articles go by various names, such as genome reports, genome announcements, genome notes or genome letters, but will be referred to here broadly as genome reports.

1. Genome Announcements, American Society for Microbiology, Genome announcement, Impact factor 1.3,  A 500-word report stating that the genome of a particular organism (prokaryote, eukaryote or virus) has been sequenced and providing a citable record of the corresponding GenBank submission. Must include abstract but no text headings can be used except for ‘Acknowledgments’ and ‘References’. Cannot include figures, tables or supplemental material to present data or analysis.

Link: https://mra.asm.org/

2. Genome Biology and Evolution, Oxford University Press, Genome report, Impact factor 4.2, Focused 1500-word papers (up to six tables or figures) that publish the main evolutionary message of new genome sequences as they become submitted to GenBank. May also contain specifically focused comparative analyses of previously published genomes that contain a substantial and novel insight of broadest evolutionary significance.

Link: https://academic.oup.com/gbe

3. Journal of Biotechnology, Elsevier, Genome announcement, Impact factor 2.9, A 500-word report announcing the availability of the completely annotated genome sequence of a biotechnologically relevant organism in the corresponding database (for eukaryotes, advanced draft genomes will also be considered). Articles can contain an Abstract, a brief report on the organism and its biotechnological relevance, a table summarizing the genome features, References and an Acknowledgement. Figures are generally not allowed.

Link: https://www.journals.elsevier.com/journal-of-biotechnology

4. Journal of Genomics, Ivyspring, Genome note, Impact factor N/A, A 1000-word report (10 reference limit; conclusions not permitted) describing novel data sets from high-throughput analysis of genotypes, phenotypes, gene expression, metabolomes, proteomes or genome assemblies.Standard metrics for data quality and the experimental design must be clearly reported.

Link: http://www.jgenomics.com/

5. Memórias do Instituto, Oswaldo Cruz Oswaldo Cruz Foundation, Genome announcement and highlight, Impact factor 1.6, Dedicated to publishing new genome information from eukaryote parasites, virus, bacteria and their respective vectors, as well as re-sequencing or comparative genome analyses. Should occupy no more than three printed pages including figures and/or tables.

Link: http://memorias.ioc.fiocruz.br/

6. Molecular Ecology Resources, Wiley, Genomic resources note,  Impact factor 3.7, Short notes on newly assembled and annotated transcriptomes, genome fractions or whole genomes, and/or a library of SNP/SSR markers.Authors submit a short manuscript describing how the resource was developed and where the data can be accessed. Do not appear in journal as individual papers but are instead published as part of a summary article.

Link: https://onlinelibrary.wiley.com/journal/17550998

7. Standards in Genomic Science, BioMed Central (Springer), Short genome report, Impact factor 3.2, Short (∼500-word) article on newly sequenced genome. Article format must follow guidelines and template (available from journal Web site) put forward by the SGS. Any manuscripts not using template or that are missing key figures, tables and/or references (as per the guidelines) will be returned to authors. Rationale of the content model is to provide information that is consistently and uniformly presented for rapid and easy consumption by both human and machine readers. 

Link: https://standardsingenomics.biomedcentral.com/

8. 3biotech, Springer, Short genome report, Impact factor 1.3, Short (∼500-word) article on newly sequenced genome. Article format must follow guidelines (available from journal Web site).  Genome of a particular organism (prokaryote, eukaryote or virus) has been sequenced and providing a citable record of the corresponding GenBank submission.

Link: https://link.springer.com/journal/13205