Understanding Genome Screening

Genome screening involves analyzing an individual's DNA to identify genetic variations that may influence health and disease susceptibility. This can range from simple single-gene tests to comprehensive whole-genome sequencing. By peering into our genetic blueprint, we can uncover risks for conditions like cancer, diabetes, cardiovascular diseases, and even rare genetic disorders.

The process is straightforward: a saliva or blood sample is collected, and advanced sequencing technologies decipher the genetic code. The results provide a personalized health map, guiding lifestyle modifications, preventive measures, or medical interventions.

A Shift from Reactive to Proactive Healthcare

Traditional healthcare often focuses on treating diseases after they manifest. Genome screening flips this model on its head, enabling a shift toward prevention and early intervention. For instance:

• Cancer Risk Management: Individuals with BRCA1 or BRCA2 gene mutations can opt for enhanced screening programs or preventive surgeries to mitigate their risk of breast and ovarian cancers.

• Cardiovascular Health: Genetic predispositions to conditions like familial hypercholesterolemia can prompt early cholesterol monitoring and lifestyle adjustments.

• Rare Diseases: Identifying carriers of genetic disorders can aid in family planning and reduce the incidence of inherited conditions.

The Ethical and Practical Concerns

While genome screening offers incredible promise, it is not without challenges:

1. Accuracy and Interpretation: Genetic predisposition does not guarantee disease. Misinterpretation of results can lead to unnecessary anxiety or unwarranted medical interventions.

2. Privacy and Data Security: Genetic data is highly sensitive. Ensuring robust data protection measures is crucial to prevent misuse.

3. Accessibility and Equity: High costs and limited availability may restrict access to genome screening, exacerbating health disparities.

Balancing Science and Pseudoscience

The comparison of genome screening to horoscopes isn’t entirely unfounded. Both offer predictive insights, but the scientific foundation of genome screening distinguishes it from astrology. Unlike the alignment of celestial bodies, genetic predictions are based on rigorous data and evidence. However, the probabilistic nature of genetic predispositions underscores the importance of interpreting results in conjunction with clinical and lifestyle factors.

The Road Ahead

As genome screening becomes more affordable and integrated into routine healthcare, its potential to transform lives is immense. Policymakers, healthcare providers, and genetic counselors must collaborate to ensure ethical implementation, public awareness, and equitable access.

Imagine a future where your genetic "horoscope" is a trusted guide, not just a prediction. Early genome screening could help chart a healthier path for generations, making it a cornerstone of personalized medicine. After all, our genes might just hold the key to unlocking a future of better health and well-being.

A walk-in-Interview is proposed to be held at National Bureau of Animal Genetic Resources, Karnal (Haryana)-132001 at 10:30 AM on 19.08.2015 to select One Research Associate & Three Senior Research Fellow as per details given below:

Name of the project & project period: ICAR Consortium Platform on Genomics.

The post duration is Upto 31.03.2017 or earlier & Co-terminus with the project.

Upto 31.03.2017 or earlier and Coterminus with the project

Essential Qualifications: PhD degree in Bioinformatics OR Master’s degree in Bioinformatics with 4 years/5 years of Bachelor’s degree having 1st division or 60% marks or equivalent overall grade point average, with at least two years of research experience as evidenced from Fellowship/Associateship

Desirable: Working experience in Next Generation Sequencing data analysis

Emolument: Research Associates may be fixed at a consolidated amount at one of the two pay levels given below depending upon the qualification & experience.

I. Research Associate – Master Degree Holders Rs. 38,000/ + HRA II. Research Associate – Doctoral Degree Holder Rs. 40,000/ + HRA

Senior Research Fellow: Two:- Bioinformatics One: - Biotechnology.

Duration of engagement: Upto 31.03.2017 or earlier and Coterminus with the project

Essential Qualifications: Master degree in any one of discipline/ Subjects- Biotechnology/Bioinformatics with 4 years/5 years of Bachelor’s degree.

Candidates having post graduate degree in above mentioned subjects with 3 years Bachelor’s degree should have NET qualification.

Desirable: The candidates should have zeal to work in R environment and NGS data analysis Emolument: Rs. 28,000/- per month + HRA as per admissibility

Age Limit: 1. 40 year for Men and 45 years for Women in case of RA on the date of Interview. 2. 35 year for Men and 40 years for Women in case of SRF on the date of Interview. (Relaxation for SC/ST/OBC and PHC as per GOI/ICAR rules) The above positions are purely temporary and will be filled in on Contractual basis. The selected candidate shall have no right/claim for regular appointment at this Institute, as the engagement is co-terminus with the Project/Scheme.

Interested candidates may attend Walk-in-Interview at 10:30 AM on 19.08.2015 alongwith original certificates and typed bio-data with one set of attested copies of each their certificates with passport size photograph. No TA/DA will be paid for attending the interview. All eligible candidates are advised to be present at least 30 minutes before scheduled time on the date of interview for completing necessary formalities. Canvassing in any form will disqualify the candidates.

More at http://210.212.93.85/Advertisiment3.pdf

You can also add your favourite NGS educational material, or workshop tutorial by commenting on this bookmarks for user benefit. 

Understanding the basics of genome sequencing:

Tutorial by Luke Jostins.

http://www.genetic-inference.co.uk/blog/2009/04/basics-sequencing-dna-part-1/

http://www.genetic-inference.co.uk/blog/2009/08/basics-sequencing-dna-part-2/

A window into third-generation sequencing

http://hmg.oxfordjournals.org/content/19/R2/R227.full.pdf

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NGS data analysis pipelines

• Detecting and annotating genetic variations using the HugeSeq pipeline  DOI: 10.1038/nbt.2134
• NARWHAL, a primary analysis pipeline for NGS data http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc
• RseqFlow: Workflows for RNA-Seq data analysis  DOI: 10.1093/bioinformatics/btr441
• ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence  10.1186/1471-2164-12-285
• A framework for variation discovery and genotyping using next-generation DNA sequencing data  PubMed: 21478889
• SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects  DOI: 10.1186/1471-2105-12-134 Abstract: http://www.biomedcentral.com/1471-2105/12/134/abstract
• WEP: a high-performance analysis pipeline for whole-exome data http://www.biomedcentral.com/1471-2105/14/S7/S11
• DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data. http://www.ncbi.nlm.nih.gov/pubmed/23657089
• GATK: a Toolkit for Genome Analysis http://www.broadinstitute.org/gatk/
• Metagenomics:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsmetagenomics/
• RNASeq:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsrnaseq/
• Bioinformatics and Seq courses: http://www.isb-sib.ch/training/training-activities-schedule/archive-2013.html
• Variant Detection (Model organism) Advanced tutorial https://docs.google.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM
• Variant Detection Introductory tutorial https://docs.google.com/document/pub?id=1ZRzrjjOCvtAu3m-IKL-rbJ1f4On60dDL_IEwG7oejdI
• Microbial de novo Assembly for Illumina Data Introductory tutorial https://docs.google.com/document/pub?id=1N3AB9ptISUu4zULqe1kXpVF0BDyGb5f5yzxWSJd_WNM
• RNAseq Differential Gene Expression Introductory tutorial https://docs.google.com/document/pub?id=1KbTiBHtvHLfPRZ39AY3uriazrINA8TJzgjjwn1zPP7Y

" Please add your favourite NGS link below in comment section for the benefit of bioinformatics community ". 

Address of the bookmark: http://chagall.med.cornell.edu/NGScourse/

No of Post: 01
How To Apply: Walk-in interview will be held on 24-03-2015 at 10:00 AM at NRCPB, New Delhi for filling Research Associate and Senior Research Fellow positions as mentioned below. The positions are temporary and are initially offered for a period of one year. Details such as emoluments, qualifications, application format etc., are given below. Desirous candidates should report for interview latest by 10:30 AM with the application in the prescribed format, copies and originals of certificates, thesis and documents. No TA/DA will be provided for attending the interview
General Instructions: The positions are purely temporary, on a contractual basis and are initially offered for one year. The period and duration of the scheme is tentative and the same may change. The person employed will have no right to claim employment or engagement in ICAR at the end of the contract period. No TA/DA will be provided for appearing in the interview. Persons already in employment should bring “No Objection Certificate” from their present employer. The candidates must bring with them five copies of the CV in the format given below along with original documents such as t h e s i s , degree certificates, marks sheets, publications, experience certificate etc. for verification and one set of self attested copy of all certificates. The decision of the Project Director of this Institute will be final and binding in all aspects. In case of any disputes, it will be resolved within the jurisdiction of New Delhi Court only.
Detail of Interview: 24-03-2015
Age Limit: 35 Years
Contact Details: Ph: 011-25848783; Fax: 25843984

• data = mock data for the snakefile to use
• Snakefile = name of the snakemake “formula” file
  • Note: The default file that snakemake looks for in the current working directory is the Snakefile. If you would like to override that you can specify it following the -s
    • snakemake -s snakefile.py
• envs = directory for storing the conda environments that the workflow will use.
• scripts = directory for storing python scripts called by the snakemake formula.
• config.json = json format file with extra parameters for our snakemake file to use.
• cluster.json = json format file with specification for running on the HPC
• samples.txt = file we will use later relating to the config.json file.

Run the snakemake file as a dry run (the example workflow shown above).

• This will build a DAG of the jobs to be run without actually executing them.
• snakemake --dry-run

User can execute rules of interest.

• snakemake --dry-run all VS. snakemake --dry-run call VS. snakemake --dry-run bwa

Run the snakemake file in order to produce an image of the DAG of jobs to be run.

• snakemake --dag | dot -Tsvg > dag.svg OR snakemake --dag | dot -Tsvg > dag.svg

Run the snakemake (this time not as a dry run)

1. snakemake --use-conda

NIPGR is commonly known as National Institute of Plant Genome Research. Recently, it’s great opportunity for those candidates who are interested to do job in NIPGR. National Institute of Plant Genome Research (NIPGR) had found to build a bridge between the branches of natural sciences and due this connection it is steeping on the heaps of success. Its objectives to preserve, research, production and the advancement in the trait are very clear and also being appreciated by the nation and had been contributing for the further enrichment of the institute. NIPGR had announced the recruitment to further make improvements and amendments by the young potential in their panel. The recruitment is being announced for the post is mentioned below. We are giving a complete information to applicants for find their eligibility as per desired post under NIPGR Recruitment 2015 project but if the candidates are not satisfied with this information then they can download an official advertisement of NIPGR recruitment 2015 from the link defined ahead under the head of reference.

NIPGR Recruitment 2015 for the 1 post of Research Associate: National Institute of Plant Genome Research (NIPGR) had instigated the progression of the recruitment and this process is linked thoroughly so as the 1 post of Research Associate. Applicants are associated and linked with the education to be PHD degree in the life science, biotechnology, bioinformatics or molecular biology. Applicants are associated with the dispatch of the application along with the required certificates so as on the date of 24th Feb 2015.

The recruitment notification and application @ http://www.nipgr.res.in/careers/vacancies_latest.php#

Pipeline flowchart:

Address of the bookmark: https://github.com/Tom-Jenkins/nextflow-pipelines/blob/main/docs/variant-calling.md

More at http://bcil.nic.in/default.htm

Address of the bookmark: https://sourceforge.net/projects/taxoblast/files/

Vacancies:
Research Associate-02
Age Limits:
Candidates age limit should be not more than 40 years as on date of interview.
Qualification:
Candidates should possess Ph.D in Bioinformatics/Agricultural Statistics/Statistics/Computer Science/Computer Application or equivalent.
Selection Process:
Selection will be based on interview.
How to Apply:
Eligible candidates may attend for interview along with application in prescribed format, recent passport size photograph pasted on the application form, bio-data, original certificates and self attested copies of relevant documents, all experience certificates, testimonials etc, held at Indian Agricultural Statistics Research Institute, Pusa, New Delhi on 18-04-2015 at 10:30 AM.
Last Date:
18-04-2015