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

MeGAMerge (A tool to merge assembled contigs, long reads from metagenomic sequencing runs)

Description

MeGAMerge is a perl based wrapper/tool that can accept any number of sequence (FASTA) files containing assembled contigs of any length in Multi-FASTA format to produce an improved contig set based on OLC based assembly. All overlap parameters (Minimum Overlap Length, Identity, etc) are user-declarable at runtime. It is written to run on Linux.

Requirements:

You will need to have the following tools installed and in $PATH, or added to $binpath in the tool:

Newbler (specifically runAssembly)
Minimus2 (part of AMOS, also requires MUMmer)

Address of the bookmark: https://github.com/LANL-Bioinformatics/MeGAMerge

Address of the bookmark: http://www.bcgsc.ca/platform/bioinfo/software/sockeye/releases/1.3

Warning! This software is to be considered under development. Functionality and the user interface may still change significantly from one version to another. If you want to use this software, please stay up to date with the list of known issues:https://github.com/BinPro/CONCOCT/issues

Address of the bookmark: https://github.com/BinPro/CONCOCT

Know of any other open source software for PacBio data? Email us.

Software categories:

• De novo assembly
• Structural Variations Detection
• Reference-based alignment
• Consensus and variant calling
• RNA analysis
• Epigenetic base modifications and methylation
• Barcoding
• Genome Browsers
• Run QC
• Frameworks and APIs

Address of the bookmark: https://github.com/PacificBiosciences/DevNet/wiki/Compatible-Software

Address of the bookmark: https://www.baseclear.com/genomics/bioinformatics/basetools/SSPACE

CABOG is one of many software programs called genome assemblers. These programs exist to overcome the fundamental limitation of all sequencing machines, namely, that they read out very few DNA letters at a time. These programs reconstruct genomes that are billions of letters long from the hundreds of letters per read that modern sequencers provide. What these programs do is often described as a scaled up version of a family solving a jigsaw puzzle.

The CABOG software was the first to accomplish many scientific goals. It was the first to assemble the genome of a multicellular organism (Drosophila melanogaster, 2000). It was the first to assemble both parental haplotypes of one human genome (J. Craig Venter, 2007). It was the first to assemble environmental sequence from the oceans (Sargasso Sea in 2004 and Global Ocean Sampling in 2007). It was first to combine reads from first-generation Sanger sequencing machines and second-generation pyrosequencing machines (Marine microbes, 2006). Today, CABOG is one of the leading assembly programs for data sets that include paired end data from the Roche 454 line of sequencing machines.

Address of the bookmark: http://www.jcvi.org/cms/research/projects/cabog/overview/

This is a fixed term post for 36 months.

We wish to recruit a highly motivated, postdoctoral scientist to carry out a BBSRC funded project in the laboratory of Dr. Denis Larkin. The project is focused on developing and applying new algorithms to study genome and chromosome evolution in birds, mammals and other vertebrate species using whole-genome sequences and existing algorithms. The post holder will use cutting edge computational and laboratory approaches to generate chromosomal assemblies for sequenced genomes, study chromosomal structures and genome differences between bird and other vertebrate species in attempt to identify species- and clade-specific genome signatures.

Applicants must have a Ph.D. and a track record of success, as indicated by first-author publications in international journals. They must possess excellent organisation skills and be capable of individual initiative and of interacting as part of a team. Applicants with extensive practical experience in bioinformatics or computer science, programming, visualization, handling of large data sets, high-performance computing are encouraged to apply. The post will involve collaboration with a wide range of academic partners both within the UK, EU and worldwide. In addition to leading their own project the post holder will have opportunities to contribute to multiple international genome initiatives.

Experience in programming, bioinformatics and comparative genome analysis is essential. Applicants should have a minimum of a degree and preferably a higher degree in a relevant subject.

The Royal Veterinary College has the largest range of veterinary, para-veterinary and animal science undergraduate and postgraduate courses of any veterinary school in the world and is one of the largest veterinary schools in Europe.

Prospective applicants are encouraged to contact Dr. Denis Larkin, Comparative Biomedical Sciences Department on +442071211906 or email: dlarkin@rvc.ac.uk

We offer a generous reward package.

For further information and to apply on-line please visit our website: www.rvc.ac.uk
Job reference CBS-0025-14A

Closing date: 4 July 2014
Interviews are likely to be held in July 2014

We promote equality of opportunity and diversity within the workplace and welcome applications from all sections of the community.

Professionally, Python is great for backend web development, data analysis, artificial intelligence, and scientific computing. Many developers have also used Python to build productivity tools, games, and desktop apps, so there are plenty of resources to help you learn how to do those as well.

For pros and cons visit http://www.bestprogramminglanguagefor.me/why-learn-python and http://bioinformaticsonline.com/discussion/view/459/python-vs-perl

More resources at https://github.com/CodementorIO/Python-Learning-Resources

Following are the list of useful python programming resources:

• 20 Python Libraries You Aren't Using (But Should) (Just fill the fields with any values)
• A Beginner's Python Tutorial
• A Byte of Python (3.x) (HTML, PDF, EPUB, Mobi)
• A Guide to Python's Magic Methods - Rafe Kettler
• A Whirlwind Tour of Python - Jake VanderPlas (PDF) (EPUB, MOBI)
• Automate the Boring Stuff - Al Sweigart
• Biopython (PDF)
• Build applications in Python the antitextbook (3.x) (HTML, PDF, EPUB, Mobi)
• Building Machine Learning Systems with Python - Willi Richert & Luis Pedro Coelho, Packt. (Just fill the fields with any values)
• Building Skills in Object-Oriented Design (Python) (PDF) (2.1.1)
• Building Skills in Python (PDF) (2.6)
• Code Like a Pythonista: Idiomatic Python
• CodeCademy Python
• Composing Programs (3.x)
• Data Structures and Algorithms in Python - B. R. Preiss (PDF)
• Dive into Python 3 - Mark Pilgrim (3.0)
  • Dive into Python - Mark Pilgrim (2.3)
• From Python to NumPy
• Full Stack Python
• Functional Programming in Python (Just fill the fields with any values)
• Fundamentals of Python Programming - Richard L. Halterman (PDF) (3.2)
• Google's Python Class (2.4 - 2.x)
• Google's Python Style Guide
• Hacking Secret Cyphers with Python - Al Sweigart (3.3)
• Hadoop with Python (Just fill the fields with any values)
• High Performance Python (PDF)
• Hitchhiker's Guide to Python! (2.6)
• How to Make Mistakes in Python - Mike Pirnat (PDF) (1st edition)
• How to Think Like a Computer Scientist: Learning with Python, Interactive Edition (3.2)
  • How to Think Like a Computer Scientist: Learning with Python - Allen B. Downey, Jeff Elkner and Chris Meyers (2.4)
  • Think Python - Allen B. Downey (2.x & 3.0)
• Intermediate Python - Muhammad Yasoob Ullah Khalid (1st edition)
• Introduction to Programming with Python (3.3)
  • Introduction to Programming Using Python - Cody Jackson (1st edition) (2.3)
• Introduction to Python - Kracekumar (2.7.3)
• Invent Your Own Computer Games With Python - Al Sweigart (3.1)
• Learn Python, Break Python
• Learn Python in Y minutes
• Learn Python The Hard Way (2.5 - 2.6)
• Learn to Program Using Python - Cody Jackson (PDF)
• Learning Python - Fabrizio Romano, Packt. (Just fill the fields with any values)
• Learning to Program
• Lectures on scientific computing with python - J.R. Johansson (2.7)
• Making Games with Python & Pygame - Al Sweigart (2.7)
• Modeling Creativity: Case Studies in Python - Tom D. De Smedt (PDF)
• Natural Language Processing with Python (3.x)
• Non-Programmer's Tutorial for Python 3 (3.3)
  • Non-Programmer's Tutorial for Python 2.6 (2.6)
• Picking a Python Version: A Manifesto (Just fill the fields with any values)
• Porting to Python 3: An In-Depth Guide (2.6 - 2.x & 3.1 - 3.x)
• Practical Programming in Python - Jeffrey Elkner (PDF)
• Problem Solving with Algorithms and Data Structures using Python - Bradley N. Miller and David L. Ranum
• Program Arcade Games With Python And Pygame (3.3)
• Programming Computer Vision with Python (PDF)
• Python 2 Official Documentation (PDF, HTML, TEXT) (2.x)
• Python 2.7 quick reference - New Mexico Tech (2.7)
• Python 3 Official Documentation (PDF, EPUB, HTML, TEXT) (3.x)
• Python Cookbook - David Beazley
• Python Data Science Handbook - Jake VanderPlas (HTML, Jupyter Notebooks)
• Python for Econometrics - Kevin Sheppard (PDF) (2.7.5)
• Python for Everybody Exploring Data Using Python 3 - Charles Severance (PDF, EPUB, HTML)
  • Python for Informatics: Exploring Information (2.7.5)
• Python for you and me (2.7.3)
• Python for you and me (3.x)
• Python Idioms (PDF)
• Python in Education (Just fill the fields with any values)
• Python in Hydrology - Sat Kumar Tomer
• Python Koans (2.7 or 3.x)
• Python Module of the Week (3.x)
  • Python Module of the Week (2.x)
• Python Notes for Professionals - Compiled from StackOverflow documentation (3.x)
• Python Practice Book (2.7.1)
• Python Practice Projects
• Python Programming (PDF) (2.6)
• Scipy Lecture Notes
• SICP in Python (3.2)
• Snake Wrangling For Kids (3.x)
• Suporting Python 3: An In-Depth Guide (2.6 - 2.x & 3.1 - 3.x)
• Test-Driven Web Development with Python (3.3 - 3.x)
• Text Processing in Python - David Mertz (2.3 - 2.x)
• The Coder's Apprentice: Learning Programming with Python 3 - Pieter Spronck (PDF) (3.x)
• The Definitive Guide to Jython, Python for the Java Platform - Josh Juneau, Jim Baker, Victor Ng, Leo Soto, Frank Wierzbicki (2.5)
• The Little Book of Python Anti-Patterns (Source)
• The Programming Historian - William J. Turkel, Adam Crymble and Alan MacEachern
• The Python Ecosystem: An Introduction
• The Python GTK+ 3 Tutorial
• The Standard Python Library - Fredrik Lundh
• Think Complexity - Allen B. Downey (2nd Edition) (PDF, HTML)
• Web2py: Complete Reference Manual, 6th Edition (pre-release) (2.5 - 2.x)
• Wikibooks: Python Programming (2.7)

Current computational interests:

Systematic analysis of genetic epistasis to identify redundant or compensatory systems and to reveal order of action in genetic pathways.
Using knockout, knockdown, or overexpression, or other perturbation experiments in combinations of genes in S. cerevisiae, C. elegans or mouse.
Using genome-scale genotyping of natural polymorphisms in S. cerevisiae and human populations.
Alternative splicing and its relationship to protein interaction networks.
Integrating large-scale studies including phenotype, genetic epistasis, protein-protein and transcription-regulatory interactions and sequence patterns to quantitatively assign function to genes and guide experimentation.

More at http://llama.mshri.on.ca/index.html