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

http://sfg.stanford.edu/denovo.html

http://sfg.stanford.edu/sequencing.html

http://sfg.stanford.edu/BLAST.html

http://sfg.stanford.edu/denovo.html 

Address of the bookmark: http://sfg.stanford.edu/guide.html

Interesting scripts within it

urbe@urbo214b[bin] ls                                                        []
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-rwxrwxr-x 1 urbe urbe 2,4K Apr 10 11:41 asmToAGP.pl
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-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
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-rwxrwxr-x 1 urbe urbe 1,9M Apr 10 11:41 cgw
-rwxrwxr-x 1 urbe urbe 1,4M Apr 10 11:41 cgwDump
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-rwxrwxr-x 1 urbe urbe 220K Apr 10 11:41 classifyMates
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-rwxrwxr-x 1 urbe urbe 9,8K Apr 10 11:41 convert-fasta-to-v2.pl
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-rwxrwxr-x 1 urbe urbe 520K Apr 10 11:41 correctPacBio
-rwxrwxr-x 1 urbe urbe 540K Apr 10 11:41 ctgcns
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-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
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-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
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-rwxrwxr-x 1 urbe urbe 140K Apr 10 11:41 filterOverlap
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-rwxrwxr-x 1 urbe urbe  29K Apr 10 11:41 fragsInVars
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-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
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-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
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-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
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-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
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-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
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-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

Address of the bookmark: http://denbi-metagenomics-workshop.readthedocs.io/en/latest/index.html

https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkw377

Address of the bookmark: http://amp.pharm.mssm.edu/Enrichr/

Script https://sourceforge.net/projects/c-l-authenticator/files/

Address of the bookmark: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0155459

It takes FASTA DNA sequence as input, and write GFF3 as output. It uses the new NHMMER tool that comes with HMMER 3.1 for HMM searching in RNA:DNA style. NHMMER binaries for 64-bit Linux and Mac OS X are included and will be auto-detected. Multithreading is supported and one can expect roughly linear speed-ups with more CPUs. 

Address of the bookmark: https://github.com/tseemann/barrnap

We describe a new method for predicting the ancestral order and orientation of those intervals from their observed adjacencies in modern species. We combine the results from this method with data from chromosome painting experiments to produce a map of an early mammalian genome that accounts for 96.8% of the available human genome sequence data. The precision is further increased by mapping inversions as small as 31 bp. Analysis of the predicted evolutionary breakpoints in the human lineage confirms certain published observations but disagrees with others. Although only a few mammalian genomes are currently sequenced to high precision, our theoretical analyses and computer simulations indicate that our results are reasonably accurate and that they will become highly accurate in the foreseeable future. Our methods were developed as part of a project to reconstruct the genome sequence of the last ancestor of human, dogs, and most other placental mammals;

Address of the bookmark: http://www.bx.psu.edu/miller_lab/car/

Dr Altan Kara is a Bioinformatics specialist at the faculty of Gene Engineering and Biotechnology Institute at TUBITAK MAM Research Center. His research interest revolves around the cancer informatics and computational aided-drug design. I applaud Dr Altan for clearly setting out both his expectations of people that join his lab/university in addition to listing his responsibilities to his research members at TUBITAK MAM Research Institüte. Hopefully, this interview will prove useful to others in the field, especially to those who are just starting their bioinformatics careers.

You can find out more about Dr Altan by visiting his (well documented) lab page (http://gmbe.mam.tubitak.gov.tr/en) and BOL page http://bioinformaticsonline.com/profile/altan . And now, on to the BOL:“Tryst with a Bioinformatician” interview series ...

• What push you to join Computational Biology/Bioinformatics?

According to me, bioinformatics is the center of modern biological research and if a researcher wants to discover new biological insights by evaluating the globally produced biological data to derivate unified solutions for specific biological problems, learning bioinformatics is the only way to achieve this goal.

• What fascinates you about Computational Biology/Bioinformatics?

It's flexibility. As well known, there are highly diverse and complex biological questions are waiting to be enlightened and it's impossible to bring solutions to this diversity by using similar approaches. Thus, the employed method has to be unique for the targeted biological problem and by using bioinformatics tools this can be easily achieved. 

• What is the one word you would use to describe yourself?

Bioinformatician. :)

• Can you please describe your research work in a nutshell for BOL users.

At my current Institute, I am working in the field of cancer bioinformatics. Briefly, the overall aim of the project which I am working for (AKMARK (Project CODE:5153403)) is, applying a bioinformatics-supported genome, transcriptome, proteome, and metabolome analysis to reveal the molecular profile of the disease through an integrated approach, and to develop an early diagnosis and scanning kit based on this profile. Alterations in the gene, transcript, protein, and metabolite profiles between normal tissue, normal tissue adjoined to the tumor (reactive stroma), tumor tissue, lymph node metastasis, and blood samples taken from the same patient and the reflection of these changes in some other selected body fluids will be revealed within the scope of the project. The molecular structures involved in the development and progression of NSCLC will be determined and relations with the clinical, tumor-node-metastasis (TNM) staging and histology will be made. The development of a diagnostic kit for immediate clinical purposes and an electrochemical biosensor for quick on-site applications are targeted through the development of a number of antibody and aptamer formed against the most specific biomarker selected from the panel.

• Is there anything else we should know about you and your research?

Besides AKMARK, I am also in preparation of having a side project that aims for the development of a computational method to design inhibitors for prokaryotic two-component systems. In this project, I will be in collaboration with Prof. Maria Kontoyianni, SIUE: Southern Illinois University Edwardsville, School of Pharmacy.

• What was your greatest scientific disappointment in life till now?

So far I do not experience any memorable scientific disappointment in my life. :)

• What major research challenges and problems did you face yet? How did you handle them?

The major challenge which I faced so far in my scientific career was predicting the interaction between the prokaryotic two-component proteins. To be able to accurately predict the interactions between these proteins, I create a meta-predictor by using a support vector machine. By using this technique I integrated six different protein-protein interaction methods in a way to cover disadvantage of one method with the advantage of another one. The meta-predictor which I developed during this work is accessible via http://metapred2cs.ibers.aber.ac.uk/ and for more detailed information about the system the articles with the PMID IDs; PMID: 27378293 and PMID: 26384938 can be read.

• What's your all-time favourite bioinformatics package, and why?

For me, the best bioinformatics package is R/Bioconductor. The reason why I like this package is, it provides lots of useful tools for comprehensive analysis and comparison of high-throughput experimental data in an integrated manner and besides lots of the packages it provides, it is open source and also open for development. As a result, it provides strong and flexible ways to do science.

• In bioinformatics, do you see yourself in which of the following roles-scientist, analyst, developer, engineer or pure academician?

Scientist / Developer.

• What will you like to accomplish in next five years / ten years?

For my current research, I would like to design a pipeline to automatically integrate and analyse omics data for cancer research which will be specifically aiming for biomarker and novel drug target discovery. In addition to this, I also like to develop another pipeline for prokaryotic TCS protein structure prediction and inhibitor design.

• When you will be retired, what would you tell next generation bioinformaticians?

Bioinformatics is not all about scripting and researchers who study in this field should never expect a tool to do their analyses for them. Besides computational skills, a bioinformatician must have a strong biological background in his/her research area which will allow them to understand if anything went wrong during their run by only looking at the results instead of just blindly trusting the output of the bioinformatics tools.

• What you always miss in bioinformatics when you will no longer working in this field?

Bioinformatics is open to doing multi-discipliner research with scientists all around the world. As a result, while I studying in this field I can interactively learn a lot from wide range research community. I think this is the one thing which I will miss the most.

• If there will be bioinformatics company owned by you in future, What are your company focus and aim?

With the increasing amount of data in databases, there is already a massive need for effective methods to eliminate the manipulated data and reach to clean/useful information. As days pass, the requirement of data mining will be the first step of any research project. For this reason, the major goal of my bioinformatics company will be developing effective tools to eliminate manipulated datasets and information that exist in the literature and provide trustworthy clean information/datasets for researchers.

• How much bioinformatics change in 2050, according to your wild imagination?

Bioinformatics is a field that constantly and dynamically changes. As the bioinformatics progress, new tools and methods become available and they provide a better application of existing methods or totally new methods that offer an alternative solution to various biological problems. A long with these updates, developers also provide easy to use GUIs for most of the tools. Considering this, if the field carries on developing like this, every single researcher with a strong biological background can be able to perform bioinformatics analyses by him/herself without needing a professional help. As a result, almost all of the bioinformaticians will be responsible just for development of new methods/tools.

• What would one piece of advice you give someone who's trying to reinvent themselves and enter into bioinformatics sector?

Bioinformatics is a wide field with a lot of career options. Thus, if a researcher likes to step into this field first he/she should be clear about the branch of the bioinformatics they like to study in. Following to this decision they should first learn at least one programing language and investigate the ways of how other researcher employed that language in their researches and WHY? A researcher, in this field, should never create and use copy paste scripts but always must understand WHY the other researcher worked in that way. Knowing the answer of this question is the only way to learn bioinformatics. Besides, a researcher in the field of bioinformatics (from any branch) must always be good about the environmental control. In other words, one should always easily control input output directories, modify files or directories, annotate and modify employed scripts during the research and should not allow any confusion during the different stages of the research. Finally, they should not blindly trust the output of a tool/software but do a benchmarking test for each of the tools which they decided to utilise in their research. In addition to this, even if the tools pass the benchmarking, researchers should have a good biological background in their field to tell if anything when wrong during the process by only looking the output(s) of the employed pipelines/packages/tools.  

We are now seeking a postdoc scholarship holder with strong background in transcriptomics to use this large collection of data for integrative studies. Focus will be on advanced bioinformatics and statistical analysis of data from high-throughput sequencing including integration with the other platforms.

The scholarship holder must have a PhD with an outstanding research and publication record and will be selected based on her/his excellence and her/his skills. A PhD should have been awarded less than five years before the deadline of the application. The scholarship holder must have a strong background in bioinformatics, computer science, computational biology or equivalent with a profound knowledge about biology and biostatistics.

Your complete application must be received at KTH no later than 2018-01-15.

https://www.kth.se/en/om/work-at-kth/stipendier/postdoctoral-scholarship-in-bioinformatics-with-focus-on-transcriptomics-and-data-integration-1.779571