BOL: Related items

Genomics for Bioinformatician

Jitendra Narayan — Sat, 20 Jul 2013 07:03:00 -0500

Genomics is the study of the genomes of organisms. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis, epistasis, pleiotropy and other interactions between loci and alleles within the genome. In contrast, the investigation of the roles and functions of single genes is a primary focus of molecular biology or genetics and is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome's networks.

Genomics was established by Fred Sanger when he first sequenced the complete genomes of a virus and a mitochondrion. His group established techniques of sequencing, genome mapping, data storage, and bioinformatic analyses in the 1970-1980s. A major branch of genomics is still concerned with sequencing the genomes of various organisms, but the knowledge of full genomes has created the possibility for the field of functional genomics, mainly concerned with patterns of gene expression during various conditions. The most important tools here are microarrays and bioinformatics. Study of the full set of proteins in a cell type or tissue, and the changes during various conditions, is called proteomics. A related concept is materiomics, which is defined as the study of the material properties of biological materials (e.g. hierarchical protein structures and materials, mineralized biological tissues, etc.) and their effect on the macroscopic function and failure in their biological context, linking processes, structure and properties at multiple scales through a materials science approach. The actual term 'genomics' is thought to have been coined by Dr. Tom Roderick, a geneticist at the Jackson Laboratory (Bar Harbor, ME) over beer at a meeting held in Maryland on the mapping of the human genome in 1986.

The outcome of almost two years of intense discussions with literally hundreds of scientists and members of the public, has three major areas of focus: Genomics to Biology, Genomics to Health, and Genomics to Society.

Genomics to Biology:
The human genome sequence provides foundational information that now will allow development of a comprehensive catalog of all of the genome's components, determination of the function of all human genes, and deciphering of how genes and proteins work together in pathways and networks.

Genomics to Health:
Completion of the human genome sequence offers a unique opportunity to understand the role of genetic factors in health and disease, and to apply that understanding rapidly to prevention, diagnosis, and treatment. This opportunity will be realized through such genomics-based approaches as identification of genes and pathways and determining how they interact with environmental factors in health and disease, more precise prediction of disease susceptibility and drug response, early detection of illness, and development of entirely new therapeutic approaches.

Genomics to Society:
Just as the HGP has spawned new areas of research in basic biology and in health, it has created new opportunities in exploring the ethical, legal, and social implications (ELSI) of such work. These include defining policy options regarding the use of genomic information in both medical and non-medical settings and analysis of the impact of genomics on such concepts as race, ethnicity, kinship, individual and group identity, health, disease, and "normality" for traits and behaviors.

This vision for the future of genomics is not just about the NHGRI. It encompasses the whole field of genomics, including the work of all the other Institutes and Centers at the NIH and of a number of other federal agencies. All of the NIH Institutes are already taking full advantage of the sequence and will apply its data to the better understanding of both rare and common diseases, almost all of which have a genetic component. A recent example of the way that the HGP and the knowledge and new technologies it has spawned are already facilitating science is the extremely rapid sequencing by groups in Canada and at the Centers for Disease Control and Prevention (CDC) in Atlanta of the genome of the virus that causes Severe Acute Respiratory Syndrome (SARS). The sequencing of the SARS virus genome provides insight into this new and deadly disease at a speed never before possible in science. In turn, this should lead to the rapid development of diagnostic tests and, in time, vaccines and effective treatments.

Links for the addition material available on Net

Genomes and genomics:

Bioinformatics and Genomics:

Structural genomics tutorial:

Comparative Genomics Tutorial:

GENOME TUTORIAL:

Tools and resources for identifying protein families, domains and motifs

Bioinformatics Tools
Tips, Tutorials, and Terminology for Using Selected Resources in Genome Database Guide:

A Web-Based Comparative Genomics Tutorial for Investigating Microbial Genomes:

Free Online Tutorials Teach Anyone How to Use Genome Databases:

Circos to create concise, explanatory, unique and print-ready visualizations of your data:

Genomics and Comparative Genomics Learning Module:

Computational Challenges in Comparative Genomics

A Tutorial:

A Comparative Genomics Resource for Grains:

PLAZA: A Comparative Genomics Resource to Study Gene and Genome Evolution in Plants:

VISTA :

Software for Genomics

Artemis Artemis is a free genome viewer and annotation tool that allows visualization of sequence features and the results of analyses within the context of the sequence, and its six-frame translation.
Chromas It will display and prints chromatogram files from ABI automated DNA sequencers, and Staden SCF files which the analysis programs for ALF, Li-Cor and Visible Genetics OpenGene sequencers can create.
Glimmer A system for finding genes in microbial DNA, especially the genomes of bacteria and archaea.Glimmer (Gene Locator and Interpolated Markov Modeler) uses interpolated Markov models (IMMs) to identify the coding regions and distinguish them from noncoding DN
Glimmer HMM A fast and accurate gene finder based on a GHMM architecture, developed specifically for eukaryotes. It incorporates splice site models adapted from the GeneSplicer program and uses interpolated Markov models for evaluating the coding regions.
Glimmer M A gene finder derived from Glimmer, but developed specifically for eukaryotes. It is based on a dynamic programming algorithm that considers all combinations of possible exons for inclusion in a gene model and chooses the best of these combinations. The d
MUMmer MUMmer is a system for rapidly aligning entire genomes, whether in complete or draft form.
pDRAW pDRAW32 is being developed as a free time hobby project. It is far from finished, but as it has reached a point where it could be helpful for many labs, it is now available to the scientific community.
Sequin Sequin is a stand-alone software tool developed by the NCBI for submitting and updating entries to the GenBank, EMBL, or DDBJ sequence databases. It is capable of handling simple submissions that contain a single short mRNA sequence, and complex submissio
Staden The Staden Package consists of a series of tools for DNA sequence preparation (pregap4), assembly (gap4), editing (gap4) and DNA/protein sequence analysis (spin).

For more software @ http://bioinformaticsonline.com/bookmarks/view/926/list-of-popular-bioinformatics-softwaretools

A Bioinformatician’s Lament

LEGE — Thu, 29 May 2025 01:33:31 -0500

"I have a presentation tomorrow," they say,

With hopeful eyes, like it’s all child's play.
As if results bloom overnight, full-grown—
Not wrangled from chaos, and error-prone.

Oh brave soul, sit, let’s walk through the tale,
Of pipelines broken and servers that fail.
The journey starts: “The data? It’s there—
Just fetch it from S3, easy, I swear.”

Now I summon awscli with dread,
Reset my keys, credentials fed.
Configure regions, IAM roles too—
All this, and still no peek at the view.

Next up, the tool: “It’s open source!”
On GitHub, rotting, no sign of remorse.
Python 2.7, some GCC trick—
The install alone might make you sick.

Finally, progress! The pipeline runs…
Till RAM collapses and error stuns.
Oh, and the metadata? A crime,
Merged cells, font soup, out of time.

Sample IDs—what a cryptic game:
Sample_1, S1, sample-1... the same?
Controls mislabeled, cases flipped,
No wonder my sanity's starting to slip.

Then QC plots, PCA joy—
Wait, that’s a tumor labeled as a boy?
Clusters cross, and axes lie,
And I still don’t know which sample’s "guy."

But the clock ticks on, and it’s half-past doom,
They want the final UMAP soon.
With pastel colors, labeled clear—
"Can we move that legend to right here?"

Tweak by tweak, I adjust each frame,
Resize Panel B, annotate a name.
Export the plot—it starts to gleam…
Then my laptop crashes. I scream.

This is the grind, the long-haul game,
Where science hides behind code and flame.
No “Export to Nature” button to press,
Just toil and logic and hope for success.

So next time you whisper that fated line—
“I have a talk, can you make it shine?”
Know: bioinformatics is craft, not a click,
It’s science with scars, not just a quick fix.

To all who debug at 3AM light,
Who ghostwrite figures through sleepless night—
You are the backbone, silent and true,
First-author-worthy, if only they knew.

"कल मेरी प्रेज़ेंटेशन है," वो कहते हैं,

आशा भरी आँखों से, जैसे सब सहज है।
जैसे परिणाम रातोंरात प्रकट हो जाएं—
ना कि डेटा की भूलभुलैया से उखाड़े जाएं।

आओ बैठो, एक किस्सा सुनाता हूँ,
जहाँ पाइपलाइन टूटती है, और सर्वर भी थक जाते हैं।
कहानी शुरू होती है: “डेटा तो है—
बस S3 बकेट में, एकदम पास में कहीं।”

अब awscli बुलाता हूँ डरते हुए,
कुंजी सेट करूँ, क्रेडेंशियल जोड़ूं, रीजन भरूँ।
इतनी मशक्कत, फिर भी डेटा नहीं मिला,
बस सेटअप में ही पूरा दिन चला।

फिर आता है टूल: “ओपन-सोर्स है!”
GitHub पर है, 2019 से सूखा पड़ा है।
Python 2.7 चाहिए, एक पुराना कम्पाइलर,
और साथ में थोड़ी सी दुआ की ताकत।

आख़िरकार टूल चला, खुशी सी हुई,
लेकिन रन करते ही, मेमोरी ने हार मानी।
और मेटाडेटा? एक एक्सेल की आफ़त,
मर्ज़ किए हुए सेल, बस और क्या चाहिए काफ़ियत?

सैंपल आईडी? बस भगवान ही जाने—
Sample_1, sample-1, S1, और control1—
ये सब एक ही सैंपल हैं क्या?
पता तब चलता है जब पूछो दो-तीन बार।

काउंट मैट्रिक्स तैयार, अब R या Python की बारी,
QC करो, PCA प्लॉट—पर कुछ गड़बड़ भारी।
ट्यूमर और नॉर्मल का अदला-बदली खेल,
बार-बार, वही पुरानी झमेल।

आख़िर में आया मॉडलिंग का समय,
स्टैट्स, प्लॉट्स, डिफरेंशियल एक्सप्रेशन का श्रम।
लेकिन घड़ी में 5 बज चुके हैं जनाब,
और 8 बजे तक UMAP चाहिए, साफ़-सुथरा जबाब।

तो मैं कोड लिखता हूँ रात भर बैठ कर,
कलर पैलेट, जीन लेबल, लीजेंड बाहर रख कर।
फ़ॉन्ट, पैनल, एक्सिस सब सुधार,
एक्सपोर्ट करता हूँ... और लैपटॉप कहता है—"अब नहीं यार!"

इसीलिए बायोइन्फॉर्मेटिक्स में लगता है समय,
ये “बस सीरत चलाओ” या “वोल्कैनो प्लॉट बनाओ” नहीं है।
ये है सिस्टम एडमिन का काम, डेटा की सफ़ाई,
QC, डिबगिंग, और सांइस की सच्ची लड़ाई।

तो कुछ सीखें इस व्यथा से आप भी आज:
24 घंटे पहले चमत्कार मत माँगिए।
अच्छे फ़िगर साफ़ डेटा से बनते हैं।
बायोइन्फॉर्मेटिक्स जादू नहीं, विज्ञान है।
समय से बात कीजिए, प्रक्रिया का सम्मान कीजिए।

और उन सभी बायोइन्फॉर्मेटिशियनों को सलाम,
जो दूसरों की प्रेज़ेंटेशन के लिए रातों में जागते हैं—
तुम हो फ़िगर्स के भूत लेखक,
तुम हो बिना नाम के सह-लेखक।
तुम पहले लेखक बनने के हक़दार हो—
और एक लंबी नींद के भी।

Note: Written with the help of AI/LLM Tools !

Research with help of bioinformatics helpful

Jit — Fri, 02 Aug 2013 11:20:24 -0500

Endocrinologist G.R. Sridhar says

Research with the help of bioinformatics with a trans-disciplinary approach is yielding good results.
http://www.thehindu.com/features/education/research/research-with-help-of-bioinformatics-helpful/article2295629.ece

Courses to Get You Started with Bioinformatics

LEGE — Tue, 30 Sep 2025 13:07:19 -0500

Bioinformatics is now at the heart of modern biology and medicine. From decoding genomes and predicting antimicrobial resistance, to developing personalized medicine and advancing evolutionary research, computational skills are no longer optional — they are essential.

Yet, for many students, biologists, and even computer scientists, the question is: “Where do I begin?” With so many platforms, books, and tutorials available, it’s easy to feel overwhelmed.

To make it easier, I’ve compiled 10 excellent resources — ranging from beginner-friendly introductions to advanced computational genomics courses. Many of these are freely available, created by pioneers in the field, and widely used in classrooms and research labs worldwide.

Whether you are a complete beginner or looking to strengthen your foundations, these courses will help you build the skills needed to analyze biological data, design workflows, and think computationally about complex biological systems.

1. HarvardX Data Analysis for Genomics by Rafael Irizarry

From the almighty Rafa, this set of online courses (via edX/HarvardX) is a classic starting point for genomic data science and bioinformatics.

2. Applied Computational Genomics – Aaron Quinlan

Aaron Quinlan (creator of bedtools and many other tools) has made his course materials open. A practical, tool-driven genomics introduction.

3. Bioinformatics Algorithms (Coursera + Companion Book)

Find the highly visual video classes on Coursera, backed by the popular Bioinformatics Algorithms book.

4. The Biostar Handbook

Not a course per se, but a hands-on manual by Istvan (founder of Biostars.org) that’s even used in classes at Penn State.

5. Introduction to Bioinformatics and Computational Biology (by Shirley Liu)

A comprehensive introduction from Shirley Liu’s lab (Harvard DFCI). Covers both theory and computational practice.

6. Data Carpentry: Genomics Workshops

Community-driven training workshops that focus on practical, reproducible research. I was honored to serve as curriculum committee chair here.

7. Computational Genomics: Applied Comparative Genomics

From the Schatz Lab — applied comparative genomics with real-world data.

8. Introduction to Computational Biology (Mike Love, creator of DESeq2)

This course bridges statistics, biology, and computation — a solid primer for anyone entering computational biology.

9. MIT Computational Biology (6.047 / 6.878 / HST.507) by Manolis Kellis

Covers genomes, networks, evolution, and health. A deep-dive from MIT’s OpenCourseWare archive.

10. An Introduction to Applied Bioinformatics

An interactive textbook with Python code, designed for practical applied bioinformatics learning.

Comparative genomics of gene expression lab

Wed, 09 Sep 2026 03:35:46 -0500

The core expertise of the lab is comparative genomics. We combine evolutionary bioinformatics and molecular biology to understand the mechanism, function and evolution of genes.
We study the processes of gene expression and protein synthesis, and we are particularly interested in the phenomenon of translational recoding (programmed exceptions to the genetic code). For more information, see Research.

More at https://www.mariottigenomicslab.com/

2013 NextGen Genomics & Bioinformatics Technologies (NGBT) Conference, New Delhi, INDIA

Thu, 08 Aug 2013 16:21:16 -0500

2013 NextGen Genomics & Bioinformatics Technologies (NGBT) Conference

SciGenom Research Foundation (SGRF) and Institute of Genomics and Integrative Biology (IGIB) are pleased to host the Next-Generation Sequencing and Bioinformatics for Genomics & Healthcare conference.

In the ten years since the first human reference genome was completed for US$3 billion the sequencing technologies have radically changed leading to great reduction in sequencing cost. Today a human genome can be sequenced for under US$ 5000 in less than two weeks. It is expected that by the end of 2015 the cost of sequencing a human genome will drop to below thousand dollars. The next generation sequencing technologies over the past five years have enabled a large number of genomic studies that impact human health and disease. Also, this has made possible the growth of microbial, animal and plant genomics studies. While the data production has increased at a rapid pace challenges remain in analyzing and understanding the data. The conference will cover the next generation sequencing (NGS) technologies, bioinformatics for NGS and applications of NGS in many areas including personalized medicine.

For more info : http://www.scigenomconferences.com/2013/default.php

When NGS gives you more data than you ever asked for!

BioStar — Wed, 23 Sep 2026 10:16:43 -0500

Postdoctoral Associate - Bioinformatics at Duke University Medical Center

Sat, 10 Aug 2013 18:38:38 -0500

The Department of Biostatistics and Bioinformatics at Duke University Medical Center is seeking a Postdoctoral Associate for a one year appointment to work on several high-dimensional research projects. The specific goals of the project are to identify genes or molecular markers that are predictive of clinical outcomes in renal and prostate cancer.

Candidates must have: a PhD degree in statistics, biostatistics or bioinformatics, extensive experience in analyzing high-dimensional data (microarray, SNP, CNVs) and of validation approaches. In addition, experience in penalized regression methods, data base manipulation; and strong programming skills in order to conduct Monte Carlo studies and applications (R). Candidate must have excellent communication skills (verbal, written and presentation), a strong proficiency in Linux system.

This position is available immediately and will be filled as soon as possible. Appointment could be extended beyond the first year based on additional funding.

For more information about the Department of Biostatistics and Bioinformatics, please visit our website: http://www.biostat.duke.edu.

For more info: http://biostat.duke.edu/sites/biostat.duke.edu/files/Halabi%20-%20Postdoc%20Job%20Posting%202013%20updated.pdf

Duke University is an Equal Opportunity/Affirmative Action Employer.

Great Place to Study Bioinformatics in Europe

Rahul Agarwal — Sun, 18 Aug 2013 18:41:34 -0500

Study bioinformatics is like being jack of all trade so it is important you choose where it will be good backup of computer science, and natural science infrastructure and faculty. Especially having a good teachers in computer science is indispensible.

Few places in Europe where good (and @some places no tution fees) master bioinformatics courses and recommended are:

KU Leuven, Belgium

http://onderwijsaanbod.kuleuven.be/opleidingen/e/CQ_50269018.htm

ETH, Zurich

http://www.cbb.ethz.ch/

University of Copenhagen, Denmark

http://studies.ku.dk/masters/bioinformatics/

University of Helsinki, Finland

http://www.cs.helsinki.fi/en/mbi/

Stockholm University, Sweden

http://www.sbc.su.se/masters/

Universities in Netherlands