Ramalingaswamy Re-entry Fellowship
Welcoming Indian scientists working abroad back to our institutions..

TATA Innovation Fellowships
Promotes innovations towards path-breaking solutions for major challenges..

TWAS fellowships
For doctorate & post-doctorate students from developing countries at Indian institutions..

Cutting-Edge Research Enhancement and Scientific Training (CREST) Award
Granted to biotech researchers for advanced scientific training abroad..

Wellcome Trust/DBT India Alliance
Building excellence among Indian bio-medical scientists by supporting future leaders..

More at http://www.dbtindia.nic.in/funding-mechanism/fellowships-for-scientists/

Following are the list of Ancestral /sequence/ reconstruction (ASR) tools: 

inferCars

Reconstructs contiguous regions of an ancestral genome. Given information about adjacencies between conserved segments in each modern species, our goal is to infer segment order in the ancestral genome. To get a clean and precise statement of the problem, we formalize it using graph theory. We develop an algorithm that identifies a most parsimonious scenario for the history of each individual adjacency, although the whole-genome prediction is not guaranteed to optimize traditional measures like the number of breakpoints. We introduce weights to the graph edges to model the reliability of each adjacency.

ANGES:reconstructing ANcestral GEnomeS maps

A suite of Python programs that allows reconstructing ancestral genome maps from the comparison of the organization of extant-related genomes. ANGES can reconstruct ancestral genome maps for multichromosomal linear genomes and unichromosomal circular genomes. It implements methods inspired from techniques developed to compute physical maps of extant genomes.

Cocos

Constructs phylogenies of multi-domain proteins. With a given species tree and domain phylogenies, the procedure infers the composition of ancestral multi-domain proteins. Cocos implements and extend a suggested algorithmic approach by Behzadi and Vingron in an easy-to-use program. Such method could be applied to reconstruction of partial homologous units such as bacterial operons or protein complexes.

MySSP

Constructs an initial DNA sequence at the root of the tree and simulates evolution across the tree using a variety of common models of DNA evolution. MySSP is a program for the simulation of DNA sequence evolution across a phylogenetic tree. It is designed for large-scale studies, including simulation of multiple replicates and outputs sequences into NEXUS, MEGA, or FASTA formats. MySSP has a fairly simple graphical user interface (GUI) for basic use, but also has a specialized batch script interpreter to allow for more complicated or large-scale simulations.

PARANA: Parsimonious Ancestral Reconstruction And Network Analysis

Performs parsimony based inference of ancestral biological networks. Given multiple extant networks and phylogenetic information relating extant nodes, PARANA finds a parsimonious set of ancestral interaction events (edge gains and losses) which explain the extant networks. The framework adopted by PARANA is able to represent network evolution under models that support gene duplication and loss and independent interaction gain and loss. The method works on both directed and undirected networks and can incorporate asymmetric interaction gain and loss costs. In contrast to previous approaches, PARANA does not require knowing the relative ordering of unrelated duplication events and thus, works on phylogenetic trees even where branch lengths are not provided.

GapAdj: Gapped Adjacencies

A synteny-based method that is flexible enough to handle a model of evolution involving whole genome duplication events, in addition to rearrangements, gene insertions, and losses. Ancestral relationships between markers are defined in term of Gapped Adjacencies, i.e. pairs of markers separated by up to a given number of markers. It improves on a previous restricted to direct adjacencies, which revealed a high accuracy for adjacency prediction, but with the drawback of being overly conservative, i.e. of generating a large number of contiguous ancestral regions (CARs).

ANCESTOR

A web server allowing one to easily and quickly perform the last three steps of the ancestral genome reconstruction procedure. Ancestors implements several alignment algorithms, an indel maximum likelihood solver and a context-dependent maximum likelihood substitution inference algorithm. The results presented by the server include the posterior probabilities for the last two steps of the ancestral genome reconstruction and the expected error rate of each ancestral base prediction.

ProCARs

Reconstructs ancestral gene orders as contiguous ancestral regions (CARs) with a progressive homology-based method. ProCARs runs from a phylogeny tree (without branch lengths needed) with a marked ancestor and a block file. This homology-based method is based on iteratively detecting and assembling ancestral adjacencies, while allowing some micro-rearrangements of synteny blocks at the extremities of the progressively assembled CARs. The method starts with a set of blocks as the initial set of CARs, and detects iteratively the potential ancestral adjacencies between extremities of CARs, while building up the CARs progressively by adding, at each step, new non-conflicting adjacencies that induce the less homoplasy phenomenon. The species tree is used, in some additional internal steps, to compute a score for the remaining conflicting adjacencies, and to detect other reliable adjacencies, in order to reach completely assembled ancestral genomes.

FastML

A user-friendly tool for the reconstruction of ancestral sequences. FastML implements various novel features that differentiate it from existing tools: (i) FastML uses an indel-coding method, in which each gap, possibly spanning multiples sites, is coded as binary data. FastML then reconstructs ancestral indel states assuming a continuous time Markov process. FastML provides the most likely ancestral sequences, integrating both indels and characters; (ii) FastML accounts for uncertainty in ancestral states: it provides not only the posterior probabilities for each character and indel at each sequence position, but also a sample of ancestral sequences from this posterior distribution, and a list of the k-most likely ancestral sequences; (iii) FastML implements a large array of evolutionary models, which makes it generic and applicable for nucleotide, protein and codon sequences; and (iv) a graphical representation of the results is provided, including, for example, a graphical logo of the inferred ancestral sequences.

maxAlike

Reconstructs a genomic sequence for a specific taxon based on sequence homologs in other species. The input is a multiple sequence alignment and a phylogenetic tree that also contains the target species. For this target species, the algorithm computes nucleotide probabilities at each sequence position. Consensus sequences are then reconstructed based on a certain confidence level.

MLGO: Maximum Likelihood for Gene Order Analysis

A web tool for the reconstruction of phylogeny and/or ancestral genomes from gene-order data. MLGO was designed for analysis of large-scale genomic changes including not only rearrangements but also gene insertions, deletions and duplications. MLGO can be used to infer a phylogeny from genome rearrangement and gene order data, and can also obtain an estimation of ancestral genomes, given an input tree. MLGO takes the advantage of binary encoding on gene-order data, supports a fairly general model of genomic evolution (rearrangements plus duplications, insertions, and losses of genomic regions), and successfully accommodates itself into the framework of maximized likelihood.

Image Reference : Wiki

1. TATA SCHOLARSHIP - Cornell University, New York State, USA
Tata, the Indian multinational conglomerate company, have a foundation known as the Tata Education & Development Trust which has endowed a multi million dollar sum to Cornell University to provide undergraduate scholarships to 20 Indian students every year.  In another example of supporting American universities, the Tata group also pledged US$50 million to Harvard University in recent years, whose executive management programme Ratan Tata attended in the 1970s.  Read more...  

2. BRADMAN FOUNDATION SCHOLARSHIP - University of Wollongong, Australia.
Named after Australia's cricket legend Donald Bradman, the UOW Bradman Foundation Scholarship was launched in 2012, with the help of Adam Gilchrist no less, to offer one successful Indian student each year a 50% reduction in tuition fees.  Read more...  

3. HUAWEI MAITREE SCHOLARSHIPS - Various Universities, China
Along with Tata, Huawei are the other huge corporation to be featured.  China's massive telecoms equipment vendor are involved in these scholarships offered to Indian students studying in China.  In 2013 there are 10 generous scholarships available which provide full tuition fees and living expenses.  The courses on which the scholarships are offered include Science and Technology courses, Social Sciences and Culture and Development courses.  Read more...

4. DR. MANMOHAN SINGH SCHOLARSHIPS - Cambridge University, England, UK
These scholarships have been designed to help budding Indian minds follow in the footsteps of Indian prime minister Manmohan Singh by studying at the prestigious Cambridge University.  The scholarships can be applied to any undergarduate course (with the two exceptions of medicine and veterinary science) and cover everything, i.e. tuition and college fees, living expenses and an additional grant to go towards travel expenses.  Read more...

5. OXFORD AND CAMBRIDGE SOCIETY OF INDIA - Oxford & Cambridge Universities, England, UK
As the name might suggest, these are scholarships available for students wishing to study at Oxford or Cambridge (cleverly known together as Oxbridge).  It is only available for applicants who are completing or have completed a degree at an Indian university, however these scholarships are for both undergraduate and graduate students.  Read more...

6. EDINBURGH NAPIER UNIVERSITY - Scotland, UK
This one applies to all countries in the Indian subcontinent and is for both undergraduate and graduate courses. Edinburgh Napier University offers a merit based discount of £2,000 Pounds.  Read more...

7. SHEFFIELD UNIVERSITY - Sheffield, UK
Provides merit-based scholarships for undergraduate and graduate programmes across all subjects. Read more...

8. INDIA 4EU II - Several Universities across Europe
Pioneered by the European Union and involving partner universities in France, Finland, Germany, Italy, Portugal, Spain and Sweden, the India 4EU II initiative is aimed at encouraging Indian students to study, work and live in Europe.  The initiative is well funded and allows the successful students tuition fees, expenses for living and travel costs as well as insurance during their time at one of the partner universities.  Read more...

9. TRINITY COLLEGE DUBLIN - Ireland
Valid for undergraduate courses in the faculties of Arts, Humanities, Social Sciences, Science, Computer Science or Engineering, the Trinity College Dublin offers Indian students scholarships to the tune of €9,000 per annum over a year degree course.  Read more...

10. UNIVERSITY COLLEGE DUBLIN - Ireland
Another of Ireland and Dublin's finest, the UCD awards one Global Excellence Undergraduate Scholarship which provides the worthy student a substantial 50% towards their tuition fees and is valid for all courses save medicine, radiography and veterinary medicine.  UCD also offers a Global Undergraduate Scholarship scheme for undergrads accepted on science, social sciences, arts and business courses.  This is all thanks to a €250,000 fund that will allow for 57 Indian students to benefit from scholarships at UCD.  Read more...

Nearly 20% of the such journals have a flashy impact factor and quick publication time, which are quick give-aways. Interestingly, under contact address, some journal websites do not even provide any address to contact. All of this has led to the emergence of a new and dark market of deceptive publishers that exploit the concept of open access and provide channels for “scientific journal” publication with little or no peer review. For a fee, they will publish almost anything – even if the study was fatally flawed. And these journals provide a forum that can be used as a channel to publish fraudulent “advocacy research.” You can find list of certain such publishers at "Beall's List" http://beallslist.weebly.com/

Keeping all these in mind, Government of India (GOI) decided to approved certain bioinformatics and computational biology journals for your research publication.

Following are the list of GOI validated and peer reviewed bioinformatics and computational biology journals:

NOTE:Each journal details are in following order Tittle\nSource\nSubject.
Point to remember: The list of journals are NOT sorted in any ascending or descending order.

If I missed any other GOI validated bioinformatics journal, then please report me in comment section.

Open Bioinformatics Journal
Scopus
Computer Science; Engineering; Medicine

PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
WoS
BIOLOGY & BIOCHEMISTRY

Advances and Applications in Bioinformatics and Chemistry
Scopus
Biochemistry, Genetics and Molecular Biology Chemistry; Computer Science

Advances in Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology; Computer Science; Engineering

Applied Bioinformatics
Scopus
Agricultural and Biological Sciences; Computer Science

BIOINFORMATICS
WoS & Scopus
COMPUTER SCIENCE

Bioinformatics and Biology Insights
Scopus
Biochemistry, Genetics and Molecular Biology; Computer Science; Mathematics

BMC BIOINFORMATICS
WoS & Scopus
COMPUTER SCIENCE

BRIEFINGS IN BIOINFORMATICS
WoS & Scopus
COMPUTER SCIENCE

Computational systems bioinformatics / Life Sciences Society. Computational Systems Bioinformatics Conference
Scopus
Medicine

Current Bioinformatics
WoS & Scopus
COMPUTER SCIENCE

Current Protocols in Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology

JOURNAL OF COMPUTATIONAL INTELLIGENCE IN BIOINFORMATICS
ICI
BIOLOGICAL SCIENCE

Journal of integrative bioinformatics
Scopus
Medicine

Journal of Proteomics and Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology; Computer Science

Mathematical Biology and Bioinformatics
Scopus
Engineering; Mathematics

Trends in Bioinfprmatics
Scopus
Computer Science

Eurasip Journal on Bioinformatics and Systems Biology
Scopus
General; Computer Science; Mathematics; Medicine

Evolutionary Bioinformatics
WoS & Scopus
COMPUTER SCIENCE

Genomics, Proteomics and Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology;Mathematics

IEEE/ACM Transactions on Computational Biology and Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology;Mathematics

IEEE-ACM Transactions on Computational Biology and Bioinformatics
WoS
COMPUTER SCIENCE

International Journal of Bioinformatics Research and Application
Scopus
Biochemistry, Genetics and Molecular Biology; Medicine, Health

International Journal o f Data M ining and Bioinformatics
WoS & Scopus
COMPUTER SCIENCE

IPSJ Transactions on Bioinformatics
Scopus
Biochemistry, Genetics and Molecular Biology;Computer Science

Journal of Bioinformatics and Computational Biology
WoS & Scopus
COMPUTER SCIENCE

Journal of Clinical Bioinformatics
Scopus
Medicine

PLoS Computational Biology
WoS & Scopus
BIOLOGY & BIOCHEMISTRY

Reviews in Computational Chemistry
WoS & Scopus
CHEMISTRY

RSC Theoretical and Computational Chemistry Series
Scopus
Chemistry; Computer Science

Annual Reports in Computational Chemistry
Scopus
Chemistry; Mathematics

Computational and Structural Biotechnology Journal
Scopus
Biochemistry, Genetics and Molecular Biology; Computer Science

Computational and Theoretical Chemistry
WoS & Scopus
CHEMISTRY

COMPUTATIONAL BIOLOGY AND CHEMISTRY
WoS & Scopus
COMPUTER SCIENCE

COMPUTATIONAL CHEMISTRY
WoS
CHEMISTRY

Journal of Theoretical and Computational Chemistry
Scopus
Chemistry; Computer Science

Theoretical and Computational Chemistry
Scopus
Chemistry

Wiley Interdisciplinary Reviews: Computational Molecular Science
Scopus
Biochemistry, Genetics and Molecular Biology;Chemistry; Computer Science; Materials Science; Mathematics

Wiley Interdisciplinary Reviews- Computational Molecular Science
WoS
CHEMISTRY

Interdisciplinary sciences, computational life sciences
Scopus
Medicine

Interdisciplinary Sciences-Computational Life Science
WoS
Biology and Biochemistry

International Journal of Computational Biology and Drug Design
Scopus
Computer Science; Pharmacology, Toxicology and Pharmaceutics

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

Followings are the quick way to check if a value exist in an array.

do_something if 'flour' ~~ @ingredients   # ~~ operand.   BEWARE: it is broken.

do_something if grep {$_ eq 'flour'} @ingredients # grep (slower than 'any')

do_something if any {$_ eq 'flour'} @ingredients # List::MoreUtils / Util::Any

do_something if any(@ingredients) eq 'flour'   # use syntax 'junction';

do_something if @ingredients->contains('flour')   # added with autobox

• Bioinformatics - RSS feed of current and advance online publications
• Genome Research - current & advance
• Genome Biology - editors picks, latest, most viewed, most forwarded. (Hit the RSS icon under each tab).
• PLoS Genetics - new articles
• PLoS Computational Biology - new articles
• Nature Genetics - current TOC and AOP
• Nature Reviews Genetics - current TOC and AOP

• Bioinformatics
• BMC Bioinformatics
• Briefings in Bioinformatics
• Genome Biology
• Genome Research: current and AOP
• Microbiome
• Nature Genetics, current & AOP
• Nature Reviews Genetics, current & AOP
• Nucleic Acids Research
• PLOS Computational Biology
• PLOS Genetics

Blogs. Some of these blogs are very relevant to bioinfo jobs. Others are more personal interest.

• The OpenHelix Blog
• Ensembl blog
• Galaxy News
• Blue Collar Bioinformatics
• Homologus
• Golden Helix - our 2 SNPs
• Genomics Law Report
• R-bloggers (aggregates feeds from >350 blogs about R)
• Genomes Unzipped
• Jason Moore's Epistasis Blog
• 23andMe - the Spitoon

• Variance Explained: David Robinson’s blog (Data Scientist at Stack Overflow, works in R and Python).
• Global Biodefense: News on pathogens, outbreaks, and preparedness, with periodic posts on genomics and bioinformatics-related developments and funding opportunities.
• In between lines of code: Lex Nederbragt’s blog on biology, sequencing, bioinformatics, …
• Simply Statistics: A statistics blog by Rafa Irizarry, Roger Peng, and Jeff Leek.
• Bits of DNA: Reviews and commentary on computational biology by Lior Pachter (fair warning: dialogue here can get a bit heated!).
• Blue Collar Bioinformatics: articles related tool validation and the open source bioinformatics community.
• Microbiome Digest – Bik’s Picks: A daily digest of scientific microbiome papers, by Elisabeth Bik, Science Editor at uBiome.
• Living in an Ivory Basement: Titus Brown’s blog on metagenomics, open science, testing, reproducibility, and programming.
• Enseqlopedia: James Hadfield’s blog on all things NGS.
• Epistasis Blog: Jason Moore’s computational biology blog.
• RStudio Blog: announcements about new RStudio functionality, updates about the tidyverse, and more.
• nextgenseek.com: Next-Gen Sequencing Blog covering new developments in NGS data & analysis.
• RNA-Seq Blog: Transcriptome Research & Industry News.
• The Allium: We all need a little humor in our lives. Like The Onion, but for science.

Forums.

• Seqanswers - bioinformatics forum
• Seqanswers - RNA-Seq forum
• BioStar
• BOL

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

You see, for the past couple of years, I’ve been a bit frustrated because OS X does not come with a whole lot of Perl modules pre-installed, and for all I googled, I couldn’t find an “idiot’s” guide for moderately-savvy-but-not-expert users like myself to install modules and dependencies on demand.

The only instructions I could find point to Fink, which basically installs modules in a path that isn’t included in the Perl @INC variable, meaning you have to manually specify the full path to the modules in every script — which is not a lot of fun if you’re developing on OS X and deploying on Red Hat, for instance.

Moreover, Fink doesn’t seem to make every module available, and it’s not very easy to determine which Fink package you need to install if you need a particular module.

So, with a script that called on several apparently unavailable modules, and a deadline looming, I finally decided to suck it up and figure out how to use CPAN to install them:

1) Make sure you have the Apple Developer Tools (XCode) installed.

These are on one of your install discs, or available as a huge but free download from the Apple Developer Connection [free registration required] or the Mac App Store. I thought I had them, but apparently when we upgraded that computer to Tiger, they went missing.

If you don’t have this stuff installed, your installation will fail with errors about unavailable commands.

1.5) Install Command Line Tools (Recent XCode versions only)

(Thank you to Tom Marchioro for informing me about this step.)

Older versions of XCode installed the command line tools (which are required to properly install CPAN modules) by default, but apparently newer ones do not. To check whether you have the command line tools already installed, run the following from the Terminal:

$ which make

This command checks the system for the “make” tool. If it spits out something like /usr/bin/make you’re golden and can skip ahead to Step 2. If you just get a new prompt and no output, you’ll need to install the tools:

1. Launch XCode and bring up the Preferences panel.
2. Click on the Downloads tab
3. Click to install the Command Line Tools

If you like, you can run which make again to confirm that everything’s installed correctly.

2) Configure CPAN.

$ sudo perl -MCPAN -e shell

perl> o conf init

This will prompt you for some settings. You can accept the defaults for almost everything (just hit “return”). The two things you must fill in are the path to make (which should be /usr/bin/make or the value returned when you run which make from the command line) and your choice of CPAN mirrors (which you actually choose don’t really matter, but it won’t let you finish until you select at least one). If you use a proxy or a very restrictive firewall, you may have to configure those settings as well.

If you skip Step 2, you may get errors about make being unavailable.

3) Upgrade CPAN

$ sudo perl -MCPAN -e 'install Bundle::CPAN'

Don’t forget the sudo, or it’ll fail with permissions errors, probably when doing something relatively unimportant like installing man files.

This will spend a long time downloading, testing, and compiling various files and dependencies. Bear with it. It will prompt you a few times about dependencies. You probably want to enter “yes”. I agreed to everything it asked me, and everything turned out fine. YMMV of course. If everything installs properly, it’ll give you an “OK” at the end.

4) Install your modules. For each module….

$ sudo perl -MCPAN -e 'install Bundle::Name'

or

$ sudo perl -MCPAN -e 'install Module::Name'

This will install the module and its dependencies. Nice, eh? Again, don’t forget the sudo.

The first time you run this after upgrading CPAN, it may prompt you to configure again (see Step 2). If you accept its offer to try to configure itself automatically, it may just run through everything without a problem.

There are a couple of potential pitfalls with specific modules (such as theLWP::UserAgent / HEAD issue), but most have workarounds, and I haven’t run into anything that wasn’t easily recoverable.

And that’s it!

Did you find this useful? Is there anything I missed?

Abstract: Strand NGS supports an extensive workflow for the analysis and visualization of RNA-Seq data. The workflow includes Transcriptome / Genome alignment, Differential expression analysis with Statistical approach and Splicing events detection. Strand NGS also supports novel discovery like identification of novel genes, exons and Novel splice junctions, alongside it can also detect gene fusion events. Further downstream analysis such as GO and pathway analysis can be performed on the set of interesting genes. The product has an option to create pipelines for time consuming jobs which automates analysis and leaves more time for end data interpretation. This webinar will give an overview of the features in the RNA-Seq data analysis workflow in Strand NGS and also highlights on parameters within each feature that can be optimized depending on datasets and analysis needs.

Speaker: Mr. Sugandan Sivamani, Senior Application Scientist, Strand Life Sciences

Date: 9th Nov, Session 1 for SAPK/ APFO: 2:30 PM IST Date: 9th Nov, Session 2 for AFO/ EMEA: 9:00 AM PST

Register here http://www.strand-ngs.com/webinar_registration