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Essentials of Genomics and Biomedical Informatics

Ron Unger and Ronen Tal-Botzer

Three innovations are driving the data revolution in medicine.

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Three innovations are driving the data revolution in medicine.

  • Next Generation Sequencing, and in particular, the ability to sequence individual genomes at diminishing costs.

  • Electronic Medical Records, and our ability to mine, using machine learning techniques, huge datasets of medical records.

  • Wearable devices, the Web, social networks and crowdsourcing - exemplifying the surprising capacity to collect medical data using non-conventional resources.

In order to take advantage of these technologies and participate in the revolution, physicians need a new toolbox that is generally lacking in the medical school curriculum.

This course is a product of a decade of a collaborative effort between researchers from the computational biology program at Bar-Ilan University, and clinicians from Sheba Medical Center to develop and deliver an extended curriculum in genomics and biomedical informatics. The program has been endorsed by the Israeli Medicine Association and Ministry of Health. Here, we present a condensed online course that includes selected topics chosen from the extended program.

This GaBI course on edX presents clinicians and digital health enthusiasts with an overview of the data revolution in medicine, and how to take advantage of it for research and in the clinic. In the scope of this single course, you will not become a bioinformatician, but you will be able to familiarize yourself with the main concepts, tools, algorithms, and databases used in this field, and understand the types of problems that these analysis techniques can help address.

The syllabus covers the main topics of this discipline in a logical order:

● Methods used to obtain medical data (genotypic and phenotypic)

● Analysis of biological molecules such as DNA, RNA, and proteins using various computational tools from the field of bioinformatics

● Use of machine learning and artificial intelligence tools to mine the huge databases of medical information accumulating in Electronic Medical Records (EMRs), the Web, and numerous data science projects in medicine

● Analysis of complex interaction networks between DNA, RNA and protein molecules to gain a more holistic and systematic view of biological systems and medical conditions

● Practical applications in the clinic and in personalized medicine research, and the use of cutting edge technology to improve health

What's inside

Learning objectives

  • ● the scientific basis, concepts, and language needed to communicate effectively with bioinformaticians, statisticians and data scientists
  • ● first-hand experience in a computational analysis in the practice sessions
  • ● an opportunity to conduct your own basic research (utilizing existing tools, not programming new ones)
  • ● sufficient background to enable further studies, research, or training towards a career in this field
  • ● and ultimately, the ability to provide better and more personalized medicine for your patients

Syllabus

Units:
Week 1: The Data Revolution in Medicine
Description of medicine as a data driven science, and discussion of new approaches to identify or design drugs optimized for specific patients and disease characteristics. We will discuss the medical revolution that combines genomic information and machine learning techniques.
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Week 2:Biological Sequence Analysis
Overview of biological sequences, how we compare pairs of sequences, perform multiple sequence alignment, and how to construct phylogenetic trees.
Week 3:Biological Databases and How to Search Them
Description of sequence databases, and introduction to BLAST, which is the main tool used to search in such databases. Then, we will mention additional genomic databases with clinical applications, and describe the UCSC genomic browser that is used for viewing multiple layers of genomic information.
Week 4: Next Generation Sequencing
Description of the technology used in Next Generation Sequencing, the computational analysis involved, and medical applications of the technology.
Week 5: Medical Machine Learning
Analysis of non-genomic types of medical data, such as those stored in Electronic Medical Records (EMRs). Harnessing modern machine learning algorithms to make sense of this data “jungle”, enable early detection and diagnosis, predict treatment outcome, and more.
Week 6: Artificial Intelligence in Medicine
Overview of today’s cutting edge technologies that strive to simulate the capabilities of human experts for medical purposes. These technologies include natural language processing, interpretation of medical images, development of decision support systems, and more.
Week 7: Systems Biology
Understanding biological systems as a dynamic network of interacting molecules. Application of this concept to rational drug design and the identification of disease biomarkers.
Week 9: Cancer as a Genomic Disease
Viewing cancer as a disease of the genome of each patient, from genetic predisposition to somatic mutations acquired later in life. Utilization of these concepts in immunotherapy.
Week 8: Human Genomic VariationsThe source of variations in the human genome and how we can predict the clinical implications of such variations. Consequences of such variations in monogenic and complex disease.

Good to know

Know what's good
, what to watch for
, and possible dealbreakers
Explores the data revolution in medicine, which is highly relevant to healthcare professionals
Taught by Ron Unger and Ronen Tal-Botzer, who are recognized for their work in genomics and biomedical informatics
Develops skills in data analysis and interpretation, which are core for personalized medicine
Offers a comprehensive overview of the field, from data acquisition to analysis and interpretation
Requires some background knowledge in biology and computer science, which may be a barrier for some learners

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Activities

Be better prepared before your course. Deepen your understanding during and after it. Supplement your coursework and achieve mastery of the topics covered in Essentials of Genomics and Biomedical Informatics with these activities:
Review basic biology
Review basic biological concepts like cells, DNA, and RNA to strengthen foundational understanding.
Browse courses on Biology
Show steps
  • Revisit high school biology textbooks or online resources
  • Take practice quizzes or review flashcards to test your knowledge
Join a study group
Collaborate with peers to discuss course concepts, share insights, and support each other's learning.
Show steps
  • Reach out to classmates or join online forums
  • Set regular meeting times to discuss course materials
  • Prepare questions and contribute actively to discussions
Create a data visualization project
Apply your knowledge of medical data by creating a visualization that presents insights or patterns.
Browse courses on Data Visualization
Show steps
  • Choose a dataset related to the course topics
  • Select appropriate visualization techniques
  • Create the visualization using tools like Tableau or Python
  • Interpret the results and draw conclusions
Two other activities
Expand to see all activities and additional details
Show all five activities
Mentor a junior student
Reinforce your knowledge by sharing it with others and providing guidance.
Show steps
  • Identify a junior student who would benefit from your support
  • Set regular meeting times to discuss course material and provide guidance
  • Share your experiences and insights to help the student succeed
Volunteer at a research lab
Gain practical experience and apply your knowledge in a real-world setting.
Show steps
  • Identify research labs or institutions that align with your interests
  • Contact the labs to inquire about volunteer opportunities
  • Assist researchers with data collection, analysis, or other tasks

Career center

Learners who complete Essentials of Genomics and Biomedical Informatics will develop knowledge and skills that may be useful to these careers:
Biostatistician
A Biostatistician combines their knowledge of statistics and biology to solve medical problems and improve the health of populations. They use statistical methods to analyze medical data, and this course helps provide a solid foundation in the collection, analysis, and interpretation of biomedical data in order to make informed decisions about diagnosis, treatment, and prevention. Additionally, concepts covered in units such as Biological Sequence Analysis and Next Generation Sequencing may be of particular interest to someone aiming to enter this field.
Clinical Research Associate
A Clinical Research Associate works with doctors, researchers, and patients to oversee the day-to-day operations of clinical trials. They ensure that the trials are conducted safely and ethically, and that the data collected is accurate. This course will help prepare you for the role by providing a comprehensive overview of the data revolution in medicine. You will learn about the latest technologies and techniques used to collect and analyze medical data, and you will gain the skills you need to manage clinical trials effectively.
Epidemiologist
An Epidemiologist investigates the causes of disease and other health problems in populations. They use statistical methods to analyze data and identify risk factors for disease, and they develop and implement programs to prevent and control disease. This course will provide you with the skills you need to become a successful Epidemiologist. You will learn about the latest methods for collecting, analyzing, and interpreting epidemiological data, and you will gain the knowledge you need to apply these methods to real-world problems.
Genetic Counselor
A Genetic Counselor provides information and support to individuals and families affected by genetic conditions. They help people to understand their genetic risks and make informed decisions about their health care. This course will provide you with the knowledge you need to become a successful Genetic Counselor. You will learn about the latest advances in genetics and genomics, and you will gain the skills you need to communicate complex genetic information to patients and families in a clear and compassionate way.
Data Scientist
Data Scientists use their knowledge of mathematics, statistics, and computer science to analyze data and solve problems. They are in high demand in the healthcare industry, where they can help to improve patient care, develop new treatments, and reduce costs. This course will provide you with the skills you need to become a successful Data Scientist in the healthcare industry. You will learn about the latest techniques for collecting, analyzing, and visualizing medical data, and you will gain the knowledge you need to apply these techniques to real-world problems.
Healthcare Consultant
A Healthcare Consultant provides advice and guidance to healthcare organizations on how to improve their operations and patient care. They use their knowledge of the healthcare industry and their analytical skills to help organizations make better decisions about their use of resources. This course will provide you with the skills you need to become a successful Healthcare Consultant. You will learn about the latest trends in the healthcare industry, and you will gain the knowledge you need to analyze healthcare data and make recommendations for improvement.
Medical Writer
A Medical Writer creates written materials about medical topics for a variety of audiences, including patients, healthcare professionals, and the general public. They use their knowledge of medicine and their writing skills to communicate complex information in a clear and concise way. This course will provide you with the skills you need to become a successful Medical Writer. You will learn about the different types of medical writing, and you will gain the knowledge you need to write effectively about medical topics.
Pharmacist
A Pharmacist dispenses medications and provides information about their use to patients. They also work with doctors and other healthcare professionals to ensure that patients are taking their medications correctly and safely. This course will provide you with the knowledge you need to become a successful Pharmacist. You will learn about the different types of medications, their uses, and their side effects. You will also gain the skills you need to counsel patients about their medications.
Registered Nurse
A Registered Nurse provides direct care to patients in a variety of settings, including hospitals, clinics, and nursing homes. They assess patients' needs, develop and implement care plans, and administer medications. This course may be useful for someone looking to enter this field by providing a foundation in the use of medical data to make informed decisions about patient care.
Physician Assistant
A Physician Assistant is a healthcare professional who works under the supervision of a doctor. They perform a variety of tasks, including taking patient histories, performing physical exams, and prescribing medications. This course may be useful for someone looking to enter this field by providing a strong foundation in the use of medical data to make informed decisions about patient care.
Teacher
A Teacher educates students in a variety of subjects, including science, math, and English. This course may be useful for someone looking to enter this field, especially those who teach biology and related subjects, by providing a strong foundation in the use of medical data and scientific concepts.
Science Writer
A Science Writer writes about scientific topics for a variety of audiences, including the general public, students, and fellow scientists. This course may be useful for someone looking to enter this field by providing a strong foundation in the use of medical data and scientific concepts.
Technical Writer
A Technical Writer creates written materials about technical topics for a variety of audiences, including users, engineers, and other technical professionals. This course may be useful for someone looking to enter this field by providing a foundation in the use of medical data and scientific concepts.
Writer
A Writer creates written content for a variety of purposes, including marketing, journalism, and fiction. This course may be useful for someone looking to enter this field by providing a foundation in the use of medical data and scientific concepts to create written content for the healthcare industry.
Web Developer
A Web Developer designs and develops websites. This course may be useful for someone looking to enter this field by providing a foundation in the use of medical data and scientific concepts to create websites for the healthcare industry.

Reading list

We've selected eight books that we think will supplement your learning. Use these to develop background knowledge, enrich your coursework, and gain a deeper understanding of the topics covered in Essentials of Genomics and Biomedical Informatics.
Provides a comprehensive overview of bioinformatics algorithms, from basic concepts to advanced techniques. It would be a valuable resource for readers who want to gain a deeper understanding of the algorithms used in computational biology and genomics.
Provides a broad introduction to the field of bioinformatics, covering topics from sequence analysis to protein structure prediction. It would be a great starting point for readers who are new to the field and want to learn the basics.
Focuses on the practical aspects of biological sequence analysis, providing detailed protocols and examples. It would be a useful resource for readers who want to learn how to use bioinformatics tools and databases.
Provides an overview of the latest DNA sequencing technologies and their applications in genomic research. It would be a valuable resource for readers who want to learn more about the use of next-generation sequencing in medicine and research.
Explores the use of machine learning in medical diagnosis and treatment. It would be a valuable resource for readers who want to learn more about the potential of AI in healthcare.
Provides a comprehensive overview of the genomic basis of cancer, from the basics of cancer genomics to the latest advances in targeted therapies. It would be a valuable resource for readers who want to learn more about the role of genomics in cancer biology and treatment.
Provides a comprehensive overview of the use of machine learning in health informatics, covering topics from data mining to predictive modeling. It would be a valuable resource for readers who want to learn more about the potential of machine learning in improving healthcare.
Provides an overview of the field of precision medicine, covering topics from the basics of genomics to the latest advances in personalized treatments. It would be a valuable resource for readers who want to learn more about the potential of precision medicine in improving healthcare outcomes.

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