bcftools: a set of companion tools, currently bundled with SAMtools, for identifying and filtering genomics variants.

bowtie: widely used, open source alignment software for aligning raw sequence reads to a reference genome.

BAM Format: binary, compressed format for storing SAM data.

BCF Format: Binary call format. Binary, compressed format for storing VCF data.

CIGAR String: Compact Idiosyncratic Gapped Alignment Report. A compact string that (partially) summarizes the alignment of a raw sequence read to the reference genome. Three core abbreviations are used: M for alignment match; I for insertion; and D for Deletion. For example, a CIGAR string of 5M2I63M indicates that the first 5 base pairs of the read align to the reference, followed by 2 base pairs, which are unique to the read, and not in the reference genome, followed by an additional 63 base pairs of alignment.

FASTA Format: text format for storing raw sequence data. For example, the FASTA file at: http://www.ncbi.nlm.nih.gov/nuccore/NC_008253 contains entire genome for Escherichia coli 536.

FASTQ Format: text format for storing raw sequence data along with quality scores for each base; usually generated by sequencing machines.

genotype likelihood: the probability that a specific genotype is present in the sample of interest. Genotype likelihoods are usually expressed as a Phred-scaled probability, where P = 10 ^ (-Q/10). For example, if the genotype TT (both alleles are T) at position 1,299,132 in human chromosome 12 (reference G) is 37, this translates to a probability of 10^-37/10 = 0.0001995, meaning that there is very low probability that the reads in your sample support a TT genotype. On the other hand, a genotype of AA at the same position with a score of 0 translates into a probability of 10^-0 = 1, indicating extremely high probability that your sample contains a homozygous mutation of G to A.

mate-pair: in paired-end sequencing, both ends of a single DNA or RNA fragment are sequenced, but the intermediate region is not. The two ends which are sequenced form a pair, and are frequently referred to as mate-pairs.

QNAME: unique identifier of a raw sequence read (also known as the Query Name). Used in FASTQ and SAM files.

paired-end sequencing: sequencing process where both ends of a single DNA or RNA fragment are sequenced, but the intermediate region is not. Particularly useful for identifying structural rearrangements, including gene fusions.

Phred-scaled probability: a scaled value (Q) used to compactly summarize a probability, where P = 10^-Q/10. For example, a Phred Q score of 10 translates to probability (P) = 10^-10/10 = 0.1. Phred-scaled probabilities are common in next-generation sequencing, and are used to represent multiple types of quality metrics, including quality of base calls, quality of mappings, and probabilities associated with specific genotypes. The name Phred refers to the original Phred base-calling software, which first used and developed the scale.

Phred quality score: a score assigned to each base within a sequence, quantifying the probability that the base was called incorrectly. Scores use a Phred-scaled probability metric. For example, a Phred Q score of 10 translates to P=10^-10/10 = 0.1, indicating that the base has a 0.1 probability of being incorrect. Higher Phred score correspond to higher accuracy. In the FASTQ format, Phred scores are represented as single ASCII letters. For details on translating between Phred scores and ASCII values, refer to Table 1 of this useful blog post from Damian Gregory Allis.

read-length: the number of base pairs that are sequenced in an individual sequence read.

read-depth: the number of sequence reads that pile up at the same genomic location. For example, 30X read-depth coverage indicates that the genomic location is covered by 30 independent sequencing reads. Increased read-depth translates into higher confidence for calling genomic variants.

RNAME: reference genome identifier (also known as the Reference Name). Within a SAM formatted file, the RNAME identifies the reference genome where the raw read aligns.

SAM Flag: a single integer value (e.g. 16), which encodes multiple elements of meta-data regarding a read and its alignment. Elements include: whether the read is one part of a paired-end read, whether the read aligns to the genome, and whether the read aligns to the forward or reverse strand of the genome. A useful online utility decodes a single SAM flag value into plain English.

SAM Format: Text file format for storing sequence alignments against a reference genome. See also BAM Format.

SAMtools: widely used, open source command line tool for manipulating SAM/BAM files. Includes options for converting, sorting, indexing and viewing SAM/BAM files. The SAMtools distribution also includes bcftools, a set of command line tools for identifying and filtering genomics variants. Created by Heng Li, currently of the Broad Institute.

single-read sequencing: sequencing process where only one end of a DNA or RNA fragment is sequenced. Contrast with paired-end sequencing.

VCF Format: Variant call format. Text file format for storing genomic variants, including single nucleotide polymorphisms, insertions, deletions and structural rearrangements. See also BCF format.

NextGenerationSequencing
A high-throughput sequencing method which parallelizes the sequencing process, producing thousands or millions of sequences at once.

DeepSequencing
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced.

Paired-EndSequencing
Sequence both ends of the same fragment and keep track of the paired data.

Adapter
Short oligonucleotides which are attached to the DNA to be sequenced. An adapter can provide a priming site for both amplification and sequencing of the adjoining, unknown nucleic acid.

Library
A collection of DNA fragments with adapters ligated to each end.

BridgeAmplification
Generation of in situ copies of a specific DNA molecule on an oligo-decorated solid support.

EmulsionPCR
A method for bead-based amplification of a library. A single adapter-bound fragment is attached to the surface of a bead, and an oil emulsion containing necessary amplification reagents is formed around the bead/fragment component. Parallel amplification of millions of beads with millions of single strand fragments produces a sequencer-ready library.

Alignment
Mapping of sequence reads to a known reference sequence

Referencesequence/genome 
A fully assembled version of a genome that can be used for mapping short DNA sequence reads for comparisons of genomes from various individuals

CoverageDepth
The number of nucleotides from reads that are mapped to a given position of reference genome.

Specificity 
The percentage of sequences that map to the intended targets out of total bases per run.

Uniformity 
The variability in sequence coverage across target regions.

Homopolymer
Uninterrupted stretch of a single nucleotide type (e.g., TTT or GGGGGG)

InDel
InDel stands for Insertion or deletion. A form of structural variation in which a DNA segment is either deleted or inserted.

SNP 

SNP stands for Single Nucleotide Polymorphism. A single base difference found when comparing the same DNA sequence from two different individuals.

ICGEB NEW DELHI, INDIA

Biotechnology research positions

Projects include:

a) protein structure determination
b) malaria parasite biology
c) genomics and metagenomics
d) molecular and cellular biology
e) bioinformatics and computational biology

Minimum eligibility for students who have already obtained a MSc:

1) INSPIRE award for PhD
2) SPM award for PhD
3) CSIR/DBT/DST JRF for PhD

Applicants should submit their curriculum vitae by email to: sb.icgeb@gmail.com by 30 August 2016

The BINC is a nationwide examination aimed at certifying professionals in bioinformatics and tests their theoretical and practical knowledge across three phases of examination. He is entitled to receive a DBT research fellowship leading to a Ph.D. from any premier research institute in India.

DBT Invites online applications from the bioinformatics students and requisitions from biotech/bioinformatics companies.

Biotech Industry :

Biotech/Bioinformatics companies interested to provide hands on industrial training to the students of Bioinformatics under BIITP may apply online. The companies would have no obligation towards any payments to trainees. The companies would be paid bench fee to cover expenses towards training. Trainees would be provided to companies subject to availability.

Attn: Bioinformatics Students

Bioinformatics students interested in training in biotech / bioinformatics companies may apply online. Stipend of Rs. 10,000/- per month will be paid to candidates placed for training. The candidates will be selected for training through an interview.

Eligiblity :

a) B.E /B.Tech./M.Sc./M.Tech./Advanced Post Graduate Diploma in Bioinformatics from an Indian recognized university with minimum 55% marks or equivalent grade at highest degree/diploma completed in the year 2015 or 2016 are only eligible to apply.

b) The Advanced Post Graduate diploma should be of at least one year duration after graduation.

c)  Students whose result of last semester/final year is not declared can also apply mentioning their marks upto the semester/year upto which result declared. The final result with original mark sheet(s) of all the semesters/years will have to be produced at the time of interview.

Application Procedure :

The online application form is available below :

Application Form For Students (New User)

Requisition form for companies (New User)

Already registered User Click Here

The following documents are to be sent to Mr. Manoj Gupta, Manager, Biotech Consortium India Limited, 5th floor, Anuvrat Bhawan, 210, Deen Dayal UpadhyayaMarg, New Delhi-110002.

More at http://www.bcil.nic.in/biitp2016-17/index.asp

CDAC Pune Vacancy Details:
Total No. of Posts: 23

Name of the Post: Technical

Name of the Discipline:
A. Computer Science/ Information Technology and Allied disciplines.

B.Electronics Communications/ Electrical/ Telecommunication/Instrumentation & Control/ Medical Electronics/ Power Electronics/ VLSI & Embedded System and Allied disciplines.

C.Biotechnology/ Bioinformatics/ Health informatics/ Geoinformatics/ Meteorology/ Environmental Science/ Ocean Sciences/Oceanography/Environmental Engineering

1. Visually Impaired: 09 Posts

2. Hearing Impaired: 08 Posts

3. Orthopedically Impaired: 06 Posts

Educational Qualification : Candidates should possess Graduation in relvany discpline with relevant experience.

Selection Process: Candidates will be selected based on applicants performance in interview.

How to Apply: Eligible candidates can apply online through the website www.cdac.in from 27-07-2016 at 10.00 AM to 31-08-2016 at 18.00 PM.

More at http://www.cdac.in/index.aspx?id=current_jobs

a) Scientist-B – UR (2 posts-Bioinformatics) on consolidated salary of Rs.48,000/- pm + HRA

b) Scientist C – UR (1 post -Bioinformatics) on consolidated salary of Rs. 51,000 pm+ HRA

c) Scientist B- UR (2 post-Statistics) on a consolidated salary of Rs.48,000/- pm +HRA

d) Computer Programmer 1 post UR & 1 post SC on a consolidated salary of Rs. 32,500/- pm

e) Research Assistant -UR 1 post on a consolidated salary of Rs. 31,000/- pm

More at https://projectjobs.icmr.org.in/sccbioinformatics/uploads/recruitment/Adv_BMI_24122020.pdf

More at http://www.web.manit.ac.in/Year%202016/JRF/walk%20in.pdf

Duration of the Project: Six Months from the date of appointment can be extended further for six months
Essential Qualification and Experience: 1st Class Masters Degree in Bioinformatics or Life Sciences equivalent degree from a recognized University with 4 years R&D experience in Bioinformatics or relevant subjects from recognized institutes.
OR
Ph.D. degree in Bioinformatics or Life Sciences from recognized University.
M.Sc. degree obtained after a one year course will not be considered.
Experience: Research/teaching experience in Bioinformatics or relevant subjects form recognized Institute(s).

More at http://www.actrec.gov.in/data%20files/Vacancies/2016/AV-scin-stud-trainee-6-Sept-16.docx

Note: Experience in the following field required: Molecular cancer cytogenetic and genetic toxicology Molecular drug Designing and targeted therapy Cancer genomics, proteomics, bioinformatics and next generation sequencing Therapeutic stem cell research and gene therapy Molecular cancer immunology and immunotherapy Molecular epidemiology Tumor endocrinology Translation research Ultra structural/tissue engg/development biology research Virus and cancer Molecular pathology No. of Posts: 11 (Eleven), (SC-1, OBC-3, UR-7)

Location: Kolkata (Calcutta) Salary: Rs.15600-39100 + Grade, Pay Rs.5400/-

For details kindly refer to the Employment News dated 24-30 September, 2016 and in the Institute’s Website: http://www.cnci.org.in

Last date for receipt of applications is 30 days from the date of notification in the Employment News. Director Chittaranjan National Cancer Institute 378, S.P.

Institute’s Website: http://www.cnci.org.in

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?