Уважаемые аспиранты 1-го года обучения! Институт лингвистики и межкультурной коммуникации объявляет пилотный проект дисциплины
Иностранный язык осеннего семестра (общепрофессиональный модуль).
В соответствии с основными направлениями развития Сеченовского университета,в осеннем семестре 2019-2020 учебного  года работаем онлайн и изучаем самые актуальные области современной медицины на английском языке: курс BIOINFORMATICS на платформе FutureLearn.
Всем аспирантам, сдававшим при поступлении английский язык, необходимо срочно, 3-4 сентября
выполнить следующие действия:
1. регистрация и изучение курса на платформе FutureLearn
 зарегистрироваться, пройдя по ссылке https://www.futurelearn.com/courses/bioinformatics,
 начать прослушивание курса Bioinformatics;
2. регистрация и выполнение заданий на платформе Stepik
 параллельно с курсом Bioinformatics, изучаемым на платформе FutureLearn, выполнять
задания на платформе Stepik – курс «Обсуждаем биоинформатику по-английски».
 для регистрации на платформе Stepik необходимо перейти по ссылке
https://stepik.org/56804.
О форме зачёта по дисциплине Иностранный язык (общепрофессиональный модуль) будет
сообщено дополнительно.
ВАЖНО! Зарегистрироваться на платформе Stepik аспирантам необходимо под реальными ФИО,
так как по отчетам на платформе будет подводиться итог вашей работы для получения зачета.
ИНТЕРЕСНО! Аспирантам, желающим пополнить портфолио новыми достижениями, рекомендуем
получить сертификат о прохождении курса на платформе FutureLearn (обучение бесплатное,
сертификат платный – уточняйте на платформе FutureLearn).
Все вопросы отправлять по эл.почте: ilimk - postgraduate @ mai l . ru Красильниковой Варваре
Георгиевне

Clinical Bioinformatics: Unlocking Genomics in Healthcare

Content

Week 1

1.1              Welcome to Week 1. Video

1.2              Meet the Team. Article

1.3              Getting you ready for the course. Article

1.4              Introducing Genomics and Bioinformatics. Article

1.5              So Why Should We Share Data? Discussion

1.6              Clinical Bioinformaticians - so who are they? Quiz

1.7              Understanding the diagnostic odyssey for the patient. Article

1.8              Introducing the Case Study. Article

1.9              1. Clinical Investigations. Video

1.10          2. Genetic Testing. Video

1.11          3. Management and Impact. Video

1.12          What particularly interests you about the gene dossier?Discussion

1.13          A day in the life of a bioinformatician. Article

1.14          Kirsty McCaffrey Trainee Bioinformatician. Video

1.15          Simon Boardman Trainee Bioinformatician. Video

1.16          Jamie Ellingford PhD Student. Video

1.17          What role do Clinical Bioinformaticians have to play in engaging with the public? Discussion

1.18          Public Engagement - what are your thoughts? Exercise

1.19          Reflect on Week 1. Article

1.20          Your thoughts this week. Discussion

Week 2

2.1 Welcome to Week 2. Video

2.2 Introducing the bioinformatician's workflow. Article

2.3 Single gene tests, gene panels, whole genome sequencing (wgs) or whole exome sequencing (wes)? Article

2.4 1. Assembling the Genome. Article

2.5 The Process of Assembly. Video

2.6 Describing and classifying variants. Article

2.7 2. Finding the Variants. Article

2.8 Interpreting Variants. Discussion

2.9 3. Triaging the Variants. Article

2.10 Variants: you decide. Quiz

2.11 4. Adding Metadata. Article

2.12 What data would you trust? Exercise

2.13 5. Report. Article

2.14 What do you think are the challenges in this process? Discussion

2.15 Wrap up and summary. Article

Week 3

3.1 Welcome to Week 3. Video

3.2 From FASTQ to SAM files. Article

3.3 From SAM file to BAM file. Article

3.4 Essential parts of the Toolkit. Article

3.5 About the Variant Call Format (VCF) file. Article

3.6 Step One - Removing the common variants. Article

3.7 Checking the databases. Article

3.8 Genome centres & their data. Article

3.9 Step Two - Focus on key areas of the genome. Article

3.10 Gene Panels. Discussion

3.11 Have we seen this before? Article

3.12 When can we predict if a variant is damaging? Article

3.13 Can you speak Clinical Bioinformatics? Quiz

3.14 Running the workflow. Article

3.15 Galaxy Tool Demonstration. Video

3.16 Gene panel for a retinal dystrophy - part one. Exercise

3.17 Gene panel for a retinal dystrophy - part two. Exercise

3.18 Learning Summary. Article

Week 4

4.1 Welcome to Week 4. Video

4.2 Introducing the week's activities. Article

4.3 Ethics and you. Exercise

4.4 What is the difference between Privacy and Confidentiality? Article

4.5 What is the difference between Privacy and Confidentiality? Article

4.6 Balancing Values. Article

4.7 Medical Confidentiality. Discussion

4.8 What is Medical Consent? Article

4.9 Data Sharing and the law. Article

4.10 What is personal data? Article

4.11 Data sharing – The Who, What, When, Why and Where. Article

4.12 Choose who should have access to genomic data? Quiz

4.13 Steve’s Scenario – What would you do? Discussion

4.14 Recap on ethics. Article

4.15 Learning Summary. Article

Week 5

5.1 Welcome to Week 5. Video

5.2 Designing the analysis pipeline. Video

5.3 Information Sources. Article

5.4 Identifying variants. Video

5.5 Research vs diagnostic bioinformatics. Discussion

5.6 Retinal Dystrophy Case. Article

5.7 Overall Results from the paper. Article

5.8 Retinal Dystrophy cases. Quiz

5.9 Why filter and take extra steps with the data in the study? Discussion

5.10 Focusing on Family ARRP210. Discussion

5.11 Effect and Frequency on the Variants. Article

5.12 Introducing Standards and best pracitce. Video

5.13 Standards and Knowledge Sharing. Article

5.14 About validation. Discussion

5.15 What you've learnt this week. Article

5.16 Recommended Resources. Article

5.17 Congratulations. Article

Clinical Bioinformatics: Unlocking Genomics in Healthcare

Learn about the role of clinical bioinformaticians in healthcare and how their work is helping to realise the genomics revolution.

Duration 5 weeks (Free access 7 weeks)

Weekly study 2 hours

Start date 2 September 2019

Why join the course?

This free online course aims to raise awareness amongst healthcare professionals of the role of Clinical Bioinformatics and Genomics in healthcare today. We will illustrate how the discipline of Clinical Bioinformatics provides an important bridge between the cutting edge science and the delivery of genomic medicine in clinical practice. By understanding the role of a Clinical Bioinformatician it will become clear how integral they are to ensuring the beneficial opportunities of genomic medicine are fully realised in patient care.

Discover the potential of Clinical Bioinformatics

This is an exciting time. We are now beginning to sequence whole genomes in the clinic, the most personal information we can have on a patient. We can start to see how genome variants might impact on health and we can direct really precise medicine to individual patients. This is not without its challenges. The genome is a huge amount of information. Identifying the causative variant (the part in the genome that can cause a change in health) is like looking for a needle in a haystack. But what does this phrase actually mean? This course will take you into the world of a Clinical Bioinformatician and show you what they do behind the scenes when finding that needle in the genomic data. It will also show you what happens next and the important contribution Clinical Bioinformatician’s make to the patient’s journey.

Explore the methods of Clinical Bioinformatics

Clinical Bioinformatics involves tools and technologies which require a certain set of skills and expertise. Using next generation sequencing techniques and data analysis allows the bioinformatician to filter and classify the information from the human genome. The course will bring these methods and processes to life using case studies, interviews with bioinformaticians and a host of activities to help you understand the basics of Clinical Bioinformatics.

Investigate the role of Clinical Bioinformatics in healthcare

The role of clinical bioinformatics can be seen as providing a link between computer science and biology and so involves tools and technologies which require specific skills and expertise. Using Next Generation Sequencing (NGS) techniques and data analysis bioinformaticians and clinical scientists can identify, filter and classify variants found in the human genome linked with genetic disease. This course will bring these methods and processes to life using case studies, interviews with bioinformaticians and a host of activities to help you understand the role and its importance in genomic healthcare. You will also be able to see the benefits and the challenges to clinical bioinformatics in regards to wider ethical issues like those relating to data management - we’ll be asking questions about how patient data is stored and who has access to it.

Continuing Professional Development

On this course you there is an opportunity to purchase a Statement of Participation that will provide both a physical and digital record of your participation. You might find this useful for demonstrating evidence of informal Continuing Professional Development (CPD), commitment to your career, or of your awareness of the issues in a particular subject.

What topics will you cover?

• Genomics and Bioinformatics
• Data and Diagnosis
• Tools and Workflow
• Data and Ethics
• Case Studies

What will you achieve?

By the end of the course, you'll be able to...

• Describe the role of a Clinical Bioinformatician in making a difference in the patient’s journey
• Explain how Clinical Bioinformatics provides an important bridge between the cutting edge research of Genomic Medicine with the practicalities and sensitivities of a clinical setting
• Identify the types of tools and technologies a clinical bioinformatician uses to filter and classify the information from the human genome
• Explore the stages of the clinical bioinformatics workflow
• Apply knowledge of clinical bioinformatics to clinical case studies
• Explain the ethical and legal considerations that need to be made when working with genomic data.
• Investigate the typical daily challenges of developing bioinformatics to support the genomic revolution in healthcare

Who is the course for?

This course is aimed at current healthcare professionals, who are interested in learning more about the role of clinical bioinformatics and will also be applicable to people with an interest in the application of genomics in healthcare.

It is not essential to have previous experience or knowledge of bioinformatics or genomics although medical terminology is used and the course is designed to be applicable to practising healthcare professionals.