Genome Annotation and Functional Genomics

Bergman Lab is actively engaged in the development and application of computational methods to improve the annotation of functional biological features in genome sequences. Bergman Lab work focuses on improving annotation of non-protein-coding regions of the genome including conserved noncoding sequences (CNSs), cis-regulatory modules (CRMs), transcription factor binding sites (TFBSs), transposable elements (TEs) and noncoding RNA (ncRNA) genes. Current projects include improving the (i) annotation of TEs in the fly and yeast genomes, (ii) annotation of CRMs and TFBSs in the fly genome, and (iii) analysis of transposon knockout collections in flies. Research in this area is supported by the EC FP7 programme.

Genome and Molecular Evolution
Text and Data Mining

More @ http://bergmanlab.smith.man.ac.uk/

ECM3413 - Bioinformatics

Contents

General Information

Lecture Slides

Past Exam Paper

Continuous Assessments

Suggested Reading List

General Information

	This module runs in Semester 2.
	It is taught by Dr Ed Keedwell (Module Coordinator)
	Module Descriptor:  ECM3413
	Lecture Times: Tuesday 5pm,  171| Thursday, 171
	Workshop Times: Wednesday 11am Blue Room (Weeks 29,33 &40)
	Assessment: 2 CAs each worth 15% | 1 Examination worth 70%

Lecture Slides (if you have to print slides, to save your ink choose 'print in black and white' on the print menu)

	PPT|PDF| Lecture 1 - Introduction to Bioinformatics (& Biology)
	PPT|PDF| Lecture 2 - Genome Sequences: from fragments to sequences
	PPT|PDF| Lecture 3 - Sequence Alignment 1
	PPT|PDF| Lecture 4 - Global Pairwise Sequence Alignment
	PPT|PDF| Lecture 5 - Local Pairwise Sequence Alignment (Smith-Waterman & BLAST)
	DOC| Workshop 1 - Using BLAST and other Bioinformatics Databases
	PPT|PDF| Lecture 6 - Multiple Sequence Alignment
	PPT|PDF| Lecture 7 - BLAST (in more detail) & FASTA
	PPT|PDF| Lecture 8 - Sequence Alignment Conclusion & Other Sequence Analyses
	PPT|PDF| Lecture 9 - Markov Chains and Intro to Hidden Markov Models
	PPT|PDF| Lecture 10 - Hidden Markov Models
	PPT|PDF| Lecture 11 - Classification in Bioinformatics
	DOC|Workshop 2 - Using See5
	Workshop Data - Part 1 - adult.names | adult.data | adult.test, Part 3 - wdbc.names| wdbc.data
	PPT|PDF| Lecture 12 - Gene Expression Data
	PPT|PDF| Lecture 13 - Decision Trees and Gene Expression Classification
	PPT|PDF| Lecture 14 - Other Methods for Gene Expression Classification
	PPT|PDF| Lecture 15 - Gene Regulation
	PPT|PDF| Lecture 16 - Neural Networks in Gene Expression Analysis
	PPT|PDF| Lecture 17 - Genome Analysis
	PPT|PDF| Lecture 18 - Conclusion/Revision Lecture

For some reason best known to itself, my PDF creator doesn't like the slide with the substitution matrix on.  Therefore this has been removed from Lectures 3 and 7 for the PDF copy only - however, more information on these matrices can be found here.

Past Exam Paper

The paper from 2007/8 can be found here.

Continuous Assessments

	PDF|  CA1 - Manual Sequence Alignment
	PDF|Promoter.names|Promoter.data|ML.names|ML.data| CA2 - Data Mining in Bioinformatics

Suggested Reading List

General Bioinformatics

<="top">Xiong, J., (2006) Essential Bioinformatics, Cambridge University Press

	Lesk, A.M., (2002) Introduction to Bioinformatics, Oxford University Press
	Higgs, P.G., (2005) Bioinformatics and Molecular Evolution,  Blackwell Publishing

Machine Learning in Bioinformatics

	Baldi, P., Brunak, S., (2001) Bioinformatics: The Machine Learning Approach, MIT Press
	Keedwell, E., Narayanan, A., (2005) Intelligent Bioinformatics: The Application of Artificial Intelligence Techniques to Bioinformatics Problems, Wiley

Nature Biotechnology spoke with Altschul and several other originators of computational biology software programs widely used today (Table 1). The conversations explored what makes certain software tools successful, the unique challenges of developing them for biological research and how the field of computational biology, as a whole, can move research agendas forward. What follows is an edited compilation of interviews.

Detail @ http://www.nature.com/nbt/journal/v31/n10/full/nbt.2721.html

News Source @ Nature

Professor/Senior Lecturer of Comparative Genomics
Vacancy Ref: 153610
Salary: Professor, Grade 10 will be within the Professorial range and
subject to negotiation
Senior Lecturer, Grade 9, 57,696 - 64,914 per annum

The School of Biodiversity, One Health and Veterinary Medicine has an
exciting opportunity to appoint a Professor/Senior Lecturer in Comparative
Genomics. You will make a substantial and positive contribution to the
strategic direction of the School/College through leading and contributing
to research of international standard, high quality teaching at both
undergraduate and postgraduate level, securing research funding, and
providing academic leadership and management within the School/College.

Applications are invited from candidates of international standing with
an appropriate record of academic achievement in comparative genomics
and associated omics technologies. We are looking for a candidate who
will complement our existing strengths in clinical veterinary medicine,
evolutionary biology, and animal physiology, with a demonstrable interest
in using domestic mammals among their study systems. We are particularly
interested in applications from candidates with a track record of
studying health related traits and their underlying genomic basis in
companion animals. Traits of specific interest include those related
to metabolism, ageing, and disease (e.g. cancer, autoimmune diseases,
neuromuscular disorders).

The School of Biodiversity, One Health and Veterinary Medicine is home to
researchers studying organismal biology and animal health across a diverse
range of systems, approaches and disciplines with existing strengths
in infectious disease, physiology, ageing, veterinary epidemiology, and
evolution among others. You will be based on the University of Glasgow's
Garscube campus, where the majority of veterinary teaching and research
infrastructure is located. This includes the Small Animal Hospital (a
recent 15M investment) and our Veterinary Diagnostic Services, offering
excellent opportunities for collaborative research at the clinical and
translational interface, especially with respect to companion animals.

We welcome applications from candidates with a Scottish Credit and
Qualification Framework level 12 (PhD) in animal biology, genomics and
health or related discipline with an extensive and established reputation
in research and significant teaching experience within the subject area.

This post is full time and open ended.

Visit our website for further information on The University of
Glasgow's, School of Biodiversity, One Health & Veterinary Medicine,
https://www.gla.ac.uk/schools/bohvm/

Informal Enquiries should be directed to Professor Roman Biek,
Roman.Biek@glasgow.ac.uk

Apply online at:
https://my.corehr.com/pls/uogrecruit/erq_jobspec_version_4.jobspec?p_id=153610

2013 Oct Advertisement from Indian Statistical Institute

Post: Network Analysis

No. of Positions: 01

Educational Qualifications:

Candidate should have passed BE/B.Tech Or Equivalent in Computer Science / Electrical Engineering / Electronics / Information Technology / Bioinformatics / Biotechnology with throughout first Class
Experience:

(details of experience required)
Pay Scale: INR Rs.16000-20000/-P.M.

Walk-In-Interview : 22 Oct 2013 at 10:30 AM

Download Official Notification:
http://www.isical.ac.in/JobApplicationFiles/MIU_0310201311433700.pdf

What is RNA-Seq?

RNA-Seq is a next-generation sequencing (NGS) technology used to study the transcriptome—the complete set of RNA molecules in a cell. It quantifies gene expression, detects novel transcripts, and captures alternative splicing events with high sensitivity and resolution.

Workflow for RNA-Seq Analysis

RNA-Seq analysis involves several stages, each requiring computational tools and expertise.

1. Experimental Design and Data Acquisition

Before diving into analysis, bioinformaticians should consider:

• Biological Replicates: Ensure statistical power to detect meaningful differences.
• Sequencing Depth: Align sequencing depth to study objectives (e.g., higher depth for low-abundance transcripts).
• Paired-End vs. Single-End: Paired-end sequencing provides more detailed information on transcript structure.

Once sequencing is complete, raw data is provided in FASTQ format, containing sequence reads and quality scores.

2. Quality Control and Preprocessing

Quality control (QC) ensures data integrity. Tools such as FastQC evaluate metrics like base quality, GC content, and adapter contamination.

Preprocessing Steps:

• Trimming: Tools like Trimmomatic or Cutadapt remove low-quality bases and adapter sequences.
• Filtering: Discard reads below a certain quality threshold or length.

3. Read Alignment

Reads are mapped to a reference genome or transcriptome to determine their origin. Alignment tools include:

• HISAT2: Handles large genomes efficiently and supports spliced alignments.
• STAR: High-speed aligner optimized for RNA-Seq.
• Bowtie2: Suitable for short-read alignment.

Output: A SAM/BAM file containing aligned reads.

4. Transcript Assembly and Quantification

This step involves identifying transcripts and quantifying their expression levels. Tools used include:

• StringTie: Assembles and quantifies transcripts from aligned reads.
• Salmon/Kallisto: Perform pseudo-alignment for rapid and accurate quantification.

Expression levels are typically measured as TPM (transcripts per million) or FPKM (fragments per kilobase of transcript per million mapped reads).

5. Differential Expression Analysis

To identify genes with altered expression between conditions, bioinformaticians use tools such as:

• DESeq2: Accounts for data normalization and variability.
• edgeR: Handles overdispersed count data efficiently.
• Limma-voom: Combines linear modeling with RNA-Seq count data.

The output includes a list of differentially expressed genes (DEGs) with statistical significance and fold-change values.

6. Functional Annotation and Pathway Analysis

Understanding the biological significance of DEGs involves:

• Gene Ontology (GO) Analysis: Tools like DAVID or clusterProfiler categorize genes based on their biological functions.
• Pathway Enrichment Analysis: Identifies pathways enriched in DEGs using tools like KEGG, Reactome, or GSEA.

7. Visualization

Visualizing results enhances interpretability. Common visualizations include:

• Heatmaps: Show expression patterns across samples (e.g., pheatmap).
• Volcano Plots: Highlight significant DEGs (e.g., ggplot2).
• PCA/UMAP: Assess sample clustering and variability (e.g., Seurat).

Challenges in RNA-Seq Analysis

1. Batch Effects: Technical variability can confound biological signals. Combat this with normalization techniques or batch-correction tools like ComBat.
2. Low-Quality Samples: Poor-quality RNA impacts downstream analyses.
3. Computational Complexity: RNA-Seq generates massive datasets, requiring robust computing resources and optimized pipelines.

Key Tools and Resources

• Bioconductor: A treasure trove of R packages for RNA-Seq analysis.
• Galaxy: A web-based platform for running RNA-Seq workflows.
• Nextflow/Snakemake: Workflow management tools to streamline analyses.

Applications of RNA-Seq

RNA-Seq is used in diverse research areas, including:

• Cancer Transcriptomics: Identifying tumor-specific expression profiles.
• Developmental Biology: Studying dynamic transcriptome changes.
• Drug Discovery: Screening genes modulated by therapeutic compounds.

Conclusion

RNA-Seq analysis is a cornerstone of modern transcriptomics, offering bioinformaticians a versatile toolkit for unraveling gene expression and regulation. Mastering RNA-Seq workflows and tools empowers researchers to transform raw sequencing data into biological discoveries.

Whether you’re investigating disease mechanisms, exploring cellular pathways, or developing new therapeutics, RNA-Seq is a powerful ally in your bioinformatics arsenal.

Research Interest
Genomic Data Integration

Microarray Analysis

Gene and Protein Function Prediction

Detection and Analysis of Chromosomal Abnormalities and Functional Evolution

Integration of Computation and Experiments

Identification of Biological Networks and Pathways

Evaluation and Validation of Computational Predictions

Scalable Visualization-Based Data Analysis

More @ http://reducio.princeton.edu/cm/
PI page @ http://reducio.princeton.edu/cm/ogt

National Bioinformatics Infrastructure Sweden (NBIS) (nbis.se) plays an important role in advancing life science research in Sweden by providing expert support and developing cutting-edge bioinformatics infrastructure. Operating as a truly national initiative, NBIS employs more than 120 bioinformaticians, system developers, and data stewards across multiple locations in Sweden. It serves as the bioinformatics platform at SciLifeLab, a national resource that facilitates research in molecular biosciences by offering access to state-of-the-art technologies and technical expertise. With strong ties to data-producing facilities and ongoing collaborations with leading research groups, NBIS is ideally positioned to support world-class bioinformatics analyses. Furthermore, NBIS is the Swedish node in ELIXIR, the European infrastructure for biological information.

NBIS is seeking an experienced bioinformatician to support both Swedish and international projects. As part of our dynamic team, you will work closely with researchers to process large-scale biological data and contribute to advancing our data analysis infrastructure. Strong problem-solving skills, attention to detail, and the ability to troubleshoot complex bioinformatics pipelines are essential for success in this role. Flexibility and a willingness to learn are also important, as NBIS continually adapts to meet the evolving needs of the Swedish research community.

More at https://www.uu.se/en/about-uu/join-us/jobs-and-vacancies/job-details?query=778701

Details of the Positions and Pay Structure:

03 Posts for Assistant Professor in Molecular Synthesis for Drug Discovery and Development

Essential Qualifications and Requirements:

1. PhD in Synthetic Organic Chemistry/Medicinal Chemistry with research publications in high quality international journals and first class grade at the preceding degree from recognised University/Institute in India or abroad with consistently good academic record.
2. Three Yrs of Post-doctoral experience in relevant area.
3. Below 35 Yrs of age at the time of application

Desirable Experience: Candidates having strong research background in organic synthesis, total synthesis of structurally complex and medicinally important natural products/drugs related to cancer, neurodegenerative diseases (neurotropically active molecules for Alzheimer's, Parkinson’s, dementia etc) and infectious diseases such as malaria, TB etc. will be preferred.

Interested candidates may apply with:

1. Filled up Application Form (download from CBMR Website: http://www.cbmr.res.in) along with the Cover Letter, Curriculum Vitae including academic record (Bachelor degree onwards), awards, honours, list of Publications and reprints of 5 best publications.
2. Proposed research plan (max 3-4 pages).
3. Names and address (with valid e-mail and Phone number) of at least 3 academic referees.
4. Online Payment Receipt with transaction reference no. of Rs. 1000/- (USD 100 or equivalent foreign currency) on following details.
Account Number: 30054847814 Name: Director, Centre of Biomedical Research
Bank: STATE BANK OF INDIA, SGPGI Campus Branch, LUCKNOW

IFSC Code: SBIN0007789
MICR No: 22602034

Applications can be sent by registered/speed post or by e-mail to the following address:

The Director,
Centre of Biomedical Research (CBMR),
Sanjay Gandhi PGI Campus,
Raebareli Road, Lucknow-226014
e-mail: cbmr.admin@cbmr.res.in,
gp.pandey@cbmr.res.in

More Info:

http://www.cbmr.res.in/career/Advertisement%20for%20the%20post%20of%20Professors%20and%20Assistant%20Professors.pdf

1. Big Data and Bioinformatics

The exponential growth in biological data, driven by advancements in sequencing technologies and high-throughput experiments, has made bioinformatics an indispensable tool. By 2030, we anticipate:

• Petabyte-Scale Data Management: Enhanced storage solutions and cloud computing platforms will allow researchers to handle the vast amounts of data generated from omics studies, including genomics, transcriptomics, and proteomics.

• AI and Machine Learning Integration: Sophisticated algorithms will uncover patterns and relationships in large datasets, enabling predictions about gene function, disease susceptibility, and therapeutic outcomes.

2. Personalized Medicine and Genomics

Bioinformatics will play a pivotal role in tailoring healthcare to individual patients. Key developments include:

• Whole-Genome Sequencing in Clinics: The decreasing cost of sequencing will make it routine in medical diagnostics, enabling personalized treatment plans based on an individual’s genetic makeup.

• Drug Repurposing and Development: Computational tools will identify potential new uses for existing drugs, accelerating the development of targeted therapies.

3. Advancing Computational Tools

The future will see the development of more user-friendly and powerful bioinformatics tools:

• Graph-Based Approaches: Enhanced algorithms for analyzing complex biological networks, such as protein-protein interaction maps.

• Visualization Tools: Intuitive software for visualizing multi-dimensional data, enabling researchers to interpret findings more effectively.

4. Synthetic Biology and Systems Biology

Bioinformatics will continue to drive progress in synthetic and systems biology by:

• Gene Circuit Design: Leveraging computational models to design and simulate synthetic biological systems.

• Understanding Cellular Pathways: Integrating multi-omics data to model cellular processes with unprecedented accuracy.

5. Bioinformatics in Agriculture and Environmental Science

Beyond healthcare, bioinformatics will revolutionize agriculture and environmental conservation:

• Crop Improvement: Genomic studies will help develop high-yield, disease-resistant, and climate-resilient crops.

• Microbial Ecology: Metagenomics will enhance our understanding of microbial communities, aiding in bioremediation and ecosystem management.

6. Democratization of Bioinformatics

Open-source software and accessible education will broaden participation in bioinformatics research:

• Community-Driven Projects: Collaborative platforms like GitHub will continue to foster innovation in tool development.

• Education and Training: Online courses and workshops will bridge skill gaps, enabling researchers from diverse backgrounds to contribute.

Challenges and Ethical Considerations

While the future is bright, challenges remain. Data privacy and ethical concerns surrounding genetic information require careful navigation. Furthermore, addressing the digital divide is critical to ensuring equitable access to bioinformatics resources globally.

Conclusion

The future of bioinformatics is boundless, with opportunities to revolutionize our understanding of life and improve human health. As technologies evolve and collaborations flourish, bioinformatics will undoubtedly remain at the forefront of scientific discovery, unlocking the secrets of life one dataset at a time.