It is possible to create a vector by typing data directly into R using the combine function ‘c’

x

same as

x

creates the vector x with the numbers between 1 and 5.

You can see what is in an object at any time by typing its name;

x

will produce the output ‘[1] 1 2 3 4 5′

Note that names need to be quoted

daysofweek ← c(‘Monday’, ‘Tuesday’, ‘Wednesday’, ‘Thursday’, ‘Friday’);

Usually however you want to input from a file. We have touched on the ‘read.table’ function already.

mydata

Now mydata is a data frame with multiple vectors

each vector can be identified by the default syntax

#if any of these are typed it will print to screen

mydata$V1 mydata$V2 mydata$V3

By default the function assumes certain things from the file

• The file is a plain text file (there are function to read excel files: not covered here)
• columns are separated by any number of tabs or spaces
• there is the same number of data points in each column
• there is no header row (labels for the columns)
• there is no column with names for the rows** [I’ll explain].

If any of these are false, we need to tell that to the function

If it has a header column

mydata header=T also works

Note that there is a comma between different parts of the functions arguments

If there is one less column in the header row, then R assumes that the 1^st column of data after the header are the row names

Now the vectors (columns) are identified by their name

#if any of these are typed it will print to screen

mydata$A mydata$B mydata$C

# Summary about the whole data frame

summary(mydata)

# Summary information of column A

summary(mydata$A)

We can shortcut having to type the data frame each time by attaching it

attach(mydata)

# summary of column B as ‘mydata’ is attached

summary(B)

Two other important options for read.table

If is is separated only by tabs and has a header

mydata

Really useful if you have spaces in the contents of some columns, so R does not mess up reading the columns . However if the columns or of an uneven length it will tell you.

If you know that the file has uneven columns

mydata

This causes R to fill empty spaces in a columns with ‘NA’ .

The last two examples will still work with our file and give the same result as with only headers=T

Graphs

to get an idea of what R is capable of type

demo(graphics)

steps through the examples, and the code is printed to the screen

We will work with simpler examples that have immediate use to biologists.

Remember to get more information about the options to a function type ‘?function’

Histogram of A

hist(mydata$A)

If there was more data we could increase the number of vertical columns with the option, breaks=50 (or another relevant number).

boxplot(mydata)

We can get rid of the need to type the data frame each time by using the attach function

# if not already done so

attach(mydata)

boxplot(mydata$A, mydata$B, name=c(“Value A”, “Value B”) , ylab=“Count of Something”)

same as

boxplot(A, B, name=c(“Value A”, “Value B”) , ylab=“Count of Something”)

Scatter plot

# if not already done so

attach(mydata)

plot(A,B) # or plot(mydata$A, mydata$B)

SAVING an image

Windows users (Rgui) RIGHT click on image and select which you want.

These instructions work for everyone.

You need to create a new device of the type of file you need, then send the data to that device

to save as a png file (easy to load into the likes of powerpoint, also great for web applications.

png(‘filename’)

boxplot(A, B, name=c(“Value A”, “Value B”) , ylab=“Count of Something”)

or to save as a pdf

pdf(‘filename’)

boxplot(A, B, name=c(“Value A”, “Value B”) , ylab=“Count of Something”)

Note

• Nothing will appear on screen, the output is going to the file
• Also it may not be saved immediately but will once the device (or R) is turned quit.

To quit R type

q() # If you save your session, next time you start R, you will have your data preloaded.

Or if you want to remain in R

dev.off() #turns of the png (or pdf etc) device, thus forces the data to save

The new features include

(i) building gene-based and supermatrix-based phylogenies using a single command,

(ii) testing and visualizing evolutionary models,

(iii) calculating distances between trees of different size or including duplications, and

(iv) providing seamless integration with the NCBI taxonomy database.

ETE is freely available at http://etetoolkit.org

Address of the bookmark: http://etetoolkit.org

lordFAST, a novel long-read mapper that is specifically designed to align reads generated by PacBio and potentially other SMS technologies to a reference. lordFAST not only has higher sensitivity than the available alternatives, it is also among the fastest and has a very low memory footprint.

Address of the bookmark: https://github.com/vpc-ccg/lordfast

https://www.nist.gov/news-events/news/2016/09/nist-releases-new-family-standardized-genomes

Address of the bookmark: https://jimb.stanford.edu/giab/

Address of the bookmark: https://www.encodeproject.org/data-standards/reference-sequences/

Understanding Large Language Models

LLMs are AI systems trained on extensive datasets of natural language. Their ability to model context, identify patterns, and generate coherent language has proven invaluable across domains, including bioinformatics. By fine-tuning these models on biological datasets, researchers can unlock insights into molecular biology, systems biology, and beyond.

Key Applications of LLMs in Bioinformatics

1. Annotating Biological Data

Annotating genomic and proteomic data is fundamental yet labor-intensive. LLMs streamline this process by extracting functional annotations from literature and databases, predicting gene and protein functions, and providing automated insights.

2. Mining Scientific Literature

The exponential growth of publications presents a challenge for researchers to stay updated. LLMs can process large volumes of text to extract key findings, summarize papers, and identify trends, thereby facilitating efficient literature reviews.

3. Predicting Gene and Protein Functions

By leveraging sequence data and annotations, LLMs can predict the functions of uncharacterized genes and proteins. This capability is particularly useful for studying non-model organisms and orphan genes.

4. Drug Discovery and Repurposing

LLMs enable pattern recognition across chemical, genomic, and clinical datasets, identifying novel drug candidates and repurposing existing drugs for new therapeutic targets. They can simulate interactions between drugs and biological molecules, accelerating the discovery pipeline.

5. Generating Hypotheses for Research

LLMs analyze complex datasets to propose testable hypotheses. For example, they can predict protein-protein interactions, identify regulatory motifs, or model evolutionary processes in genomes.

Advantages of LLMs in Bioinformatics

• Scalability: LLMs process massive datasets rapidly, reducing the time required for data analysis.

• Versatility: These models adapt to diverse bioinformatics tasks, from genomic annotation to network analysis.

• Contextual Insights: By synthesizing information across disparate datasets, LLMs provide integrative insights into biological systems.

Challenges in Applying LLMs

Despite their promise, LLMs face limitations:

• Data Quality and Bias: Inaccurate or biased datasets can affect model predictions, necessitating rigorous data curation.

• Interpretability: Understanding the decision-making process of LLMs remains a critical challenge, especially in high-stakes fields like genomics and medicine.

• Resource Intensity: Training and deploying LLMs require substantial computational power, which can limit accessibility.

• Ethical Concerns: Handling sensitive genomic data raises privacy and security issues, emphasizing the need for ethical guidelines.

Future Prospects

The continued development of LLMs tailored for bioinformatics promises exciting advancements. Specialized models trained on omics data, open-access platforms, and interdisciplinary collaborations will expand the utility of LLMs. Moreover, integrating LLMs with other AI technologies, such as graph neural networks and reinforcement learning, can unlock deeper biological insights.

Conclusion

Large language models are revolutionizing bioinformatics by addressing longstanding challenges in data annotation, literature mining, and function prediction. Their ability to analyze complex biological datasets efficiently positions them as indispensable tools for modern research. As bioinformatics embraces AI, the synergy between LLMs and biological sciences holds the potential to unravel the complexities of life with unprecedented precision and scale.

Research Area:
Analysis of Next Generation sequence data in cancer
Methods for analysis of structural variation in cancer genomes
Next Generation sequencing in malaria
Computational comparative genomics
Sensitive genomic sequence search techniques using hidden Markov models
Tasmanian devil facial tumour disease

Link @ http://www.wehi.edu.au/faculty_members/dr_tony_papenfuss

The importance of transcriptional control has been explored in a burgeoning line of research over several decades; nevertheless, we are still far from having a complete picture of the regulatory mechanisms of genes and non-coding RNAs, and their influences on different phenotypes and disease states of a cell. Recent shifts towards large-scale analyses of transcriptional regulation on a sequence and epigenetic level are at the forefront of research, mainly due to sequencing technology advancements and a deeper understanding of the fundamental regulatory processes involved.

Arriving at a better understanding of the influence of specific parts of the overall regulatory machinery on disease states is a high priority of the group’s research agenda.

We are seeking an enthusiastic student to join the group as a PhD student. Applicants must have a BSc(Hons) or MSc degree in a relevant discipline and a willingness to learn and apply new techniques and work in a team. Both local and international students are encouraged to apply.

The studentship covers all university fees and an annual tax-exempt stipend of NZ$22,000 for three years.

Sebastian Schmeier recently joined Massey University and started his own research group in Auckland, New Zealand, a city regularly ranked one of the most livable in the world. This is your chance to experience the amazing Auckland lifestyle and the excitement of joining a young new science team, while staying connected to world class scientific networks.

To apply for the post, please send a cover letter stating your interest in the position and why you think you would be a good candidate, a Curriculum Vitae, a copy of your academic transcript, a sample of your written scientific work, and the names of three referees. Applications will be accepted until the position is filled.

Enquiries and applications to Sebastian Schmeier (s.schmeier@massey.ac.nz).

The evolutionary connections between organisms are represented graphically through phylogenetic trees. Due to the fact that evolution takes place over long periods of time that cannot be observed directly, biologists must reconstruct phylogenies by inferring the evolutionary relationships among present-day organisms. 
Application of the techniques that make this possible can be seen in the very limited field of human genetics, such as the ever more popular use of genetic testing to determine a child's paternity, as well as the emergence of a new branch of criminal forensics focused on genetic evidence.
The effect on traditional scientific classification schemes in the biological sciences has been dramatic as well. Work that was once immensely labor- and materials-intensive can now be done quickly and easily, leading to yet another source of information becoming available for systematic and taxonomic appraisal. This particular kind of data has become so popular that taxonomical schemes based solely on molecular data may be encountered. Proponents even claim that taxonomy was previously based on morphology alone, which of course is utter fable.

For additional information on phylogenetics, see list of Phylogenetics Resources on the Internet.

Phylogeny and Reconstructing Phylogenetic Trees: http://aleph0.clarku.edu/~djoyce/java/Phyltree/cover.html
the CBRG and Department of Statistics Phylogeny tutorial: http://www.compbio.ox.ac.uk/tutorials/phylogeny/
TUTORIAL: PHYLOGENETIC ANALYSIS USING PARSIMONY:http://home.cc.umanitoba.ca/~psgendb/GDE/phylogeny/parsimony/phylip.parsimony.html

PHYLIP: http://www.umanitoba.ca/afs/plant_science/psgendb/doc/Phylip/main.html
An Introduction to Molecular Phylogeny: http://bibiserv.techfak.uni-bielefeld.de/gcb04/tutorials/hoef-emden/GCB04Tut.pdf

How to make a phylogenetic tree: http://www.hiv.lanl.gov/content/sequence/TUTORIALS/TREE_TUTORIAL/Treetutorial.html
Phylogenetic Trees: http://cnx.org/content/m11052/latest/
Phylogeny by Ron Shamir: http://www.cs.tau.ac.il/~rshamir/algmb/01/scribe08/lec08.pdf
Introduction to Phylogeny: http://www.utm.edu/departments/cens/biology/rirwin/391/391Phylog.htm
Lecturer notes on Phylogeny: http://www.sbc.su.se/~bens/course_material/phylocourse1/lecture2.pdf
Principles and Practice of Phylogenetic Systematics:http://www.faculty.biol.ttu.edu/Strauss/Phylogenetics/LectureNotes.htm

Inferring phylogenetic trees: http://www.cis.hut.fi/Opinnot/T-61.6070/slides2008/pres_6070.pdf

Lecture Notes

Chapter 1 - The Diversity, Classification, and Evolution of Vertebrates:http://academic.emporia.edu/mooredwi/nathist/chap1.htm

Algorithms for Phylogenetic Reconstructions:http://lectures.molgen.mpg.de/Algorithmische_Bioinformatik_WS0405/phylogeny_script.pdf

Phylogeny.fr is a free, simple to use web service dedicated to reconstructing and analysing phylogenetic relationships between molecular sequences. Phylogeny.fr runs and connects various bioinformatics programs to reconstruct a robust phylogenetic tree from a set of sequences. For more detail : http://www.phylogeny.fr/version2_cgi/index.cgi

A Brief Tutorial on Phylogenetics
http://bioss.ac.uk/~dirk/talks/tutorial_phylogenetics.pdf

A Brief Tutorial on Phylogenetics Human Rabbit Chicken
http://bioss.ac.uk/~dirk/talks/psnup_tutorial_phylogenetics.pdf

Phylogenetic Tree Computation Tutorial Overview
http://pga.lbl.gov/Workshop/April2002/lectures/Olken.pdf

MrBayes: A program for the Bayesian inference of phylogeny
http://golab.unl.edu/teaching/SBseminar/manual.pdf

Web sites providing software for the construction of phylogenetic trees

• BioEdit

• Coelocanth-Fish Out of Time

• Computational Biochemistry Research Group

• Digital Taxonomy

• Hennig 86

• Hyperclean from Bioinformatics Solutions, Inc.

• Memorial University of Newfoundland

• Mr. Bayes

• NONA

• Oxford University Evolutionary Biology Group

• Paleobiology Database

• PAUP

• Phylip Homepage

• Poy

• Sinauer Associates

• TNT-Tree Analysis Using New Technology

• Tree Base

• Treefinder

• Tree-Puzzle

• Tree View-Taxonomy and Systematics Group at Glasgow

• Washington University-List of Phylogeny Software

Genomics England will play a key role in building on the UK’s long track record as leader in medical science advances to push the boundaries by unlocking the power of DNA data. The UK will become the first ever country to introduce this technology in its mainstream health system – leading the global race for better tests, better drugs and above all better, more personalised care.

http://www.genomicsengland.co.uk/100k-genome-project/