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.

Current projects in the Morota lab include developing kernel-based whole-genome prediction and kernel-based genome-wide association models, polygenic modeling of binary traits, reexamining the results from quantitative genetics analysis in light of functional annotation, and extending kernel methods (such as GBLUP and RKHS) specifically tailored for diverse types of emerging omics data.

In addition, candidates will be expected to leverage opportunities to interact with faculty in animal genetics and biometrics at the UNL in the areas of bioinformatics, breeding, functional genomics, quantitative genetics, and molecular genetics.

Candidates should have a B.S. or M.S. degree in quantitative disciplines with strong background and interest in statistical computing.
The starting date is Fall 2015.
For more information about research in the Morota lab at the UNL, visit: http://www.morotalab.org

A letter of interest in the position, C.V., and contact information for
three references should be emailed to Gota Morota at .
Review of applications will begin immediately, and continue until the
positions are filled. Informal inquiries are also welcome.

Also, please see: http://animalscience.unl.edu/anscprospectivegraduatestudents

We have developed panHiTE, a comprehensive and accurate pipeline for TE detection in large-scale population genomes. It has been successfully applied to hundreds of plant population genomes, demonstrating its effectiveness and scalability.

For detailed instructions, please refer to the panHiTE tutorial.

Address of the bookmark: https://github.com/CSU-KangHu/HiTE

Essential qualifications: First class M. Sc. in any branch of life sciences and qualified CSIR-UGC NET/GATE Examination.

Desirable qualifications: Practical experience in biochemical and biophysical studies of proteins

Emoluments: as per DBT norms

The project is tenable for two years, initially for one year.

Age: Below 28 years (relaxable in the case of SC/ST/OBC/women candidates)

Candidates are requested to bring two sets of complete applications on plain paper furnishing bio-data and copies of attested certificates along with originals (for verification) on the date of interview.

No TA/DA is admissible for candidates appearing at the interview.

Dr. Rajat Banerjee
Assistant Professor
Department of Biotechnology and
Dr. B. C. Guha Centre for Genetic Engineering and Biotechnology
University College of Science
35, Ballygunge Circular Road
Kolkata 700019

Advertisement: www.caluniv.ac.in/news/jrf_biotech_2.pdf

“It’s like a subway map,” she said, “but for DNA.”

That idea is exactly what Sequence Tube Map brings to life.

Instead of showing a genome as one long, confusing sequence, it displays different genomic paths like routes on a metro map. Where sequences are shared, the paths travel together. Where genetic variation occurs, they branch into different routes and may join again later.

This makes complex genome graphs much easier to explore.

Maya could now see how different haplotypes moved through the same genomic region and where they took different paths. She could even view sequencing reads mapped onto the graph, helping her understand what was happening in regions with genetic variation.

What once looked like a tangled network now looked like a journey.

Sequence Tube Map turns the complexity of graph genomes into a visual story—making it easier for scientists to see how DNA can take different routes.

Read more at  https://github.com/vgteam/sequencetubemap 

and

https://academic.oup.com/bioinformatics/article/35/24/5318/5542397

Demo at https://vgteam.github.io/sequenceTubeMap/

Required Skills: no special skills required for this job post
Required Experience:
Experience in computer aided drug design and or biochemical testing of natural or synthetic compounds is desired
Required Education:
M.Sc. / M.Tech.

Required Job Profile:
Candidate must possess M.Sc. in bioinformatics or computational biology or biotechnology or any branch of life sciences or pharmacology or chemical sciences or M.Tech. in any branch of life sciences with at least fifty five percent marks with NET or GATE.

Desired Job Profile:
Candidate having experience in computer aided drug design and or biochemical testing of natural or synthetic compounds.

How to apply:
Eligible and interested candidates should need to appear for walk-in interview on 21.11.2014 at 1700 hrs at the above mentioned address.

Contact
Pondicherry University
Dr. S. Mohane Coumar, Assistant Professor & Project Investigator, Centre for Bioinformatics, Pondicherry University, Puducherry 605 014
Email:registrar@pondiuni.edu.in
Phone: 0413-2655175

More at http://www.pondiuni.edu.in/sites/default/files/JRF-bioinfor-041114.pdf

Instead of asking only whether two genes occur together across genomes, CORGIAS asks a deeper question: did these genes actually evolve together, repeatedly gaining or losing their presence in concert, or are they merely travelling together because of their inherited history? The framework introduces two complementary approaches, Ancestral State Adjustment (ASA) and the Simultaneous EVolution test (SEV), which incorporate evolutionary information into the search for gene associations. This distinction becomes increasingly important as genome sequencing continues to uncover enormous numbers of microbial genomes, many from organisms that have never been cultured and whose genes remain functionally mysterious. In this growing genomic landscape, simply finding a gene is no longer enough—we need clues about what that gene might be doing. CORGIAS approaches this problem almost like a genomic detective: rather than treating every association as evidence, it reconstructs the evolutionary story behind the association and asks whether the evidence survives that history. By doing so, it offers a way to separate coincidence from biological connection and potentially uncover functional relationships hidden within the vast microbial genomic landscape. The broader message is beautifully simple: genes do not evolve in isolation, and understanding what they do may require us to look beyond where they are today and reconstruct how they arrived there. Sometimes, the most important clue in a genome is not the gene itself, but the evolutionary journey it has taken.

More at https://academic.oup.com/nargab/article/7/4/lqaf182/8377910?

Applications are invited for the AiCADD fellowship (MHRD, Govt. of India) of University of Kerala.

The terms and conditions of the fellowship is given below:

Ø The AiCADD PhD Fellowship scheme will be available for the students registered for full-time research or intending to register and pursue full time research at SIUCEB in frontier areas of bioinformatics, computational biology, systems biology and closely allied areas with focus on Ayur-Informatics.

Ø The fellowships will be widely announced and open to students irrespective of geographical consideration.

Ø Candidates availing of this fellowship shall not be in receipt of any other fellowships concurrently.

Ø Researchers will be selected on the basis of research aptitude test and personal interview.

Ø Each selected student will be eligible for a monthly fellowship of Rs. 10,000/- for the 1st and 2nd year and Rs. 12,000/- for the 3rd year.

Ø Candidates must register for PhD within one year of joining, failing which the fellowship will have to be remitted back.

Ø Candidates receiving the fellowship shall submit bi-annual reports of progress and the continuation of the fellowship will be based on the evaluation of the same.

Ø Candidates are also required to take up academic duties including teaching upto a maximum of 6 hours per week, as directed by AiCADD Principal Investigator.

Interested candidates may please forward their application along with resume on or before 15th November 2014 in the following address. Principal Investigator, AiCADD Centre, Dept. of Computational Biology and Bioinformatics, University of Kerala, Thiruvananthapuram - 695581.

More at https://sites.google.com/site/centreforbioinformatics/announcements

The GO provides core biological knowledge representation for modern biologists, whether computationally or experimentally based. GO resources include biomedical ontologies that cover molecular domains of all life forms as well as extensive compilations of gene product annotations to these ontologies that provide largely species-neutral, comprehensive statements about what gene products do. Although extensively used in data analysis workflows, and widely incorporated into numerous data analysis platforms and applications, the general user of GO resources often misses fundamental distinctions about GO structures, GO annotations, and what can and can not be extrapolated from GO resources. Here are ten quick tips for using the Gene Ontology.

Read "Ten Quick Tips for Using the Gene Ontology" at http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1003343

Following are the most commonly used old and new GO term enrichment determination tools. These tools are recommended to people working in a wet-lab.

CLASSIFI (Department of Pathology, UT Southwestern Medical Center)

CLASSIFI (Cluster Assignment for Biological Inference) is a data-mining tool that can be used to identify significant co-clustering of genes with similar functional properties (e.g. cellular response to DNA damage). Briefly, CLASSIFI uses the Gene OntologyTM (GO) gene annotation scheme to define the functional properties of all genes/probes in a microarray data set, and then applies a cumulative hypergeometric distribution analysis to determine if any statistically significant gene ontology co-clustering has occurred.

http://pathcuric1.swmed.edu/pathdb/classifi.html

EasyGO (China Agricultural University)

EasyGO is designed to automate enrichment job for experimental biologists to identify enriched Gene Ontology (GO) terms in a list of microarray probe sets or gene identifiers (with expression information for PAGE analysis). Also EasyGO is also a GO annotation database, especially focus on agronomical species, supporting 30 species. It is user friendly, with advanced result browsing format and in-time update.

http://bioinformatics.cau.edu.cn/neweasygo/

http://bioinformatics.cau.edu.cn/easygo/

g:GOSt (Institute of Computer Science, University of Tartu)

g:GOSt retrieves most significant Gene Ontology (GO) terms, KEGG and REACTOME pathways, and TRANSFAC motifs to a user-specified group of genes, proteins or microarray probes. g:GOSt also allows analysis of ranked or ordered lists of genes, visual browsing of GO graph structure, interactive visualisation of retrieved results, and many other features. Multiple testing corrections are applied to extract only statistically important results.

http://biit.cs.ut.ee/gprofiler/

DAVID : Gene Functional Classification (Laboratory of Immunopathogenesis and Bioinformatics, NIAID)

The Functional Classification Tool provides a rapid means to organize large lists of genes into functionally related groups to help unravel the biological content captured by high throughput technologies.

http://david.abcc.ncifcrf.gov/gene2gene.jsp

http://david.abcc.ncifcrf.gov/

API https://github.com/chrisamiller/davidapi

GOEAST (Institute of Genetics and Developmental Biology, Chinese Academy of Sciences)

GOEAST is web based software toolkit providing easy to use, visualizable, comprehensive and unbiased Gene Ontology (GO) analysis for high-throughput experimental results, especially for results from microarray hybridization experiments. The main function of GOEAST is to identify significantly enriched GO terms among give lists of genes using accurate statistical methods.

http://omicslab.genetics.ac.cn/GOEAST/

GOstat (Walter and Eliza Hall Institute of Medical Research)

Find statistically overrepresented GO terms within a group of genes

http://gostat.wehi.edu.au/

GOrilla (Technion - Laboratory of Computational Biology , Israel Institute of Technology)

GOrilla is a tool for identifying and visualizing enriched GO terms in ranked lists of genes.
It uses two approaches, first by searching for enriched GO terms that appear densely at the top of a ranked list of genes  or by searching for enriched GO terms in a target list of genes compared to a background list of genes.

GOrilla makes nice pictures !!!!

http://cbl-gorilla.cs.technion.ac.il/

Gene Ontology for Functional Analysis (GOFFA)

GOFFA is a tool developed for ArrayTrack™ that takes a list of genes and identifies terms in Gene Ontology (GO) disclaimer icon associated with those genes.

It provides several tools to view/access the GO term hierarchy, full listing of GO terms annotated with the genes associated with a given term with statically useful report.

http://www.fda.gov/ScienceResearch/BioinformaticsTools/ucm233315.htm

GOAT (The University of Manchester)

The aim of the GOAT project is to create an application that will guide users, especially biomedical researchers, in the annotation of gene products with terms from the Gene Ontology.

http://goat.man.ac.uk/

Script https://github.com/tanghaibao/goatools/

REVIGO ( Rudjer Boskovic Institute, Croatia)

REViGO is a web server that can take long lists of Gene Ontology terms and summarize them by removing redundant GO terms. The remaining terms can be visualized in semantic similarity-based scatterplots, interactive graphs, or tag clouds.

http://revigo.irb.hr/

QuickGo (EMBL-EBI Institute)

It uses extensive computational filters to allow the generation of specific subsets of GO annotations, mapped to sequence identifiers of your choice. Then GO slims are used which is collective list of GO full set of terms available from the Gene Ontology project.

http://www.ebi.ac.uk/QuickGO/

GOLEM

An interactive graph-based gene-ontology navigation and analysis tool. GOLEM is a userful tool which allows the viewer to navigate and explore a local portion of the Gene Ontology (GO) hierarchy.

http://reducio.princeton.edu/GOLEM/

BGI Web Gene Ontology (WEGO) Annotation Plot (Beijing Genomics Institute)

WEGO () is a useful tool for plotting GO annotation results. It has been widely used in many important biological research projects, such as the rice genome project [Yu, J. et al. Science 296, 79-92 (2002); Yu, J. et al. PLoS Biol 3, e38 (2005)] and the silkworm genome project [Xia, Q. et al. Science 306, 1937-40 (2004)]. It has become one of the daily tools for downstream gene annotation analysis, especially when performing comparative genomics tasks. WEGO along with two other tools, namely External to GO Query and GO Archive Query, are freely available for all users. Any suggestions are welcome at wego@genomics.org.cn. Here is a sample output generated by WEGO

http://wego.genomics.org.cn/cgi-bin/wego/index.pl

GeneGO MetaCore (MIT)

GeneGo is a leading provider of data mining & analysis solutions in systems biology. MetaCore, GeneGo's flapship product, is an integrated software suite for functional analysis of experimental data. MetaCore is based on a curated database of human protein-protein, protein-DNA interactions, transcription factors, signaling and metabolic pathways, disease and toxicity, and the effects of bioactive molecules.

https://portal.genego.com/

GOEx (Stony Brook University)

GOEx facilitates organism-specific studies by leveraging GO and providing a rich graphical user interface. It is a simple to use tool, specialized for biologists who wish to analyze spectral counting data from shotgun proteomics.

http://pcarvalho.com/patternlab

GOssTo

GOssTo and GOssToWeb are tools to calculate the semantic similarity between genes or terms in the Gene Ontology.

http://www.paccanarolab.org/gosstoweb/

GO Workbench

The Gene Ontology Analysis Viewer allows direct browsing of the Gene Ontology, and also the visualization of GO Term analysis results.

http://wiki.c2b2.columbia.edu/workbench/index.php/Gene_Ontology_Viewer

Some other useful list of GO software and tools is available at http://www.geneontology.org/GO.tools.shtml#browser

Yet another useful webpage with list of GO tools at http://neurolex.org/wiki/Category:Resource:Gene_Ontology_Tools

Experience Required: 3-5 years of experience

No of Positions : Multiple

Qualifications: Candidates with minimum qualification as M.Sc Bioinformatics with 3-5 years of experience in Life sciences R&D or Pharma Industry.

Ph.D candidates with research experience in Bioinformatics with publications in International journal and minimum 2 years of industry experience in clinical genomics will be preferred for this position.

Requirement:

1. Must have basic understanding of molecular biology and Genomics.

2. Experience in application development or must have expertise in programming using either of Perl/Python.

3. Experience in statistical programming using R/Bioconductor/Matlab.

4. Strong concept in statistical and mathematical modelling.

5. Experience in designing and developing the bioinformatics pipeline.

6. Must have minimum 2+ years of hands on experience in NSG data analysis such as RNA-Seq,Exome-Seq ,Chip-Seq and downstream analysis.

7. Knowledge in WGS ,WES, Targeted re-sequencing,GWAS and population genomics will be preferred.

8. Must have experience working on opensource software/Framework and commercial software for NGS data analysis and reporting.

9. Should be aware of handling big data and guiding team members on multiple projects simultaneously.

10. Should have experience coordinating with different groups of clinical research scientist for various project requirements.

11. Ability to work as team as well as independently with minimal support.

More at http://www.ocimumbio.com/careers1/