课程信息
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Human genetics explores the genetically determined similarities and differences between human beings. This scientific discipline encompasses a variety of related fields such as molecular genetics, genomics, population genetics and medical genetics. Study of human genetics can help to find answers to questions regarding the inheritance and development of different human phenotypes. The field of medical genetics is quickly growing and dynamically developing thanks to the new technologies such as the next-generation sequencing. Most human diseases have a genetic component. This genetic component varies by disease. Some rare diseases appear to be completely determined by the genome, whereas more common diseases arise from a complex interplay of many genes, the environment and chance. The understanding of how our genomes contribute to disease susceptibility offers the prospect of large gains: it may guide disease diagnostics and prognostics and help in developing new therapies. The overall goal of this course is to describe how the researchers find genes responsible for different diseases and how this information is used to better understand and fight these diseases. You will learn about current approaches for finding single genetic variants underlying monogenic (Mendelian) diseases and sets of variants responsible for more complex, multifactorial ones. Furthermore, you will learn how the identification of these genetic variants makes it possible to understand how the affected biological pathways lead to disease development. During the final week of the course, we will talk more about clinical applications of the genetic findings. Upon completing the course, you will be able to: - give examples of monogenic and complex disorders - recognise patterns of Mendelian inheritance of monogenic diseases; - understand and describe principles and methods of gene mapping ; - describe the main steps and principles of genome-wide association studies (GWAS); - give examples of modern technologies that are currently used to find variants underlying human diseases; - discuss the approaches to finding causative variants underlying complex disorders; - discuss the possibilities and areas of application of genetic findings....
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Intermediate Level

中级

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建议:6 weeks of study, 3-5 hours a week

完成时间大约为17 小时
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English

字幕:English
Globe

100% 在线课程

立即开始,按照自己的计划学习。
Calendar

可灵活调整截止日期

根据您的日程表重置截止日期。
Intermediate Level

中级

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建议:6 weeks of study, 3-5 hours a week

完成时间大约为17 小时
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English

字幕:English

教学大纲 - 您将从这门课程中学到什么

1

章节
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完成时间为 3 小时

Introduction. Human genome

This week you will learn about human genome organisation. This week is very important as all this knowledge will form a basis for all of the subsequent weeks of the course. Michel Georges will tell you about the structural organisation of the human genome, the mechanisms contributing to the genome variability, the main types of genetic variation (SNPs, CNVs, aneuploidy, etc.), and differences between alleles and genotypes. You will also learn the techniques used to detect different types of variations in human genome and you will find out how we can follow the inheritance of genetic material through generations. ...
Reading
7 个视频(共 54 分钟), 9 个阅读材料, 9 个测验
Video7 个视频
Course Introduction1分钟
Anatomy of the Human Genome13分钟
Identifying Functionally Important Elements in the Human Reference Genome12分钟
Genetic Polymorphism11分钟
Interrogating Genetic Variation10分钟
Week 1 Conclusion2分钟
Reading9 个阅读材料
Meet your Educators and Fellow Learners10分钟
Course Navigation10分钟
Typos in videos10分钟
Recommended Pre-reading10分钟
The Human Genome Project30分钟
Recommended Pre-reading10分钟
Recommended Pre-reading10分钟
Recommended Pre-reading10分钟
Glossary Week 110分钟
Quiz9 个练习
Pre-lecture Questions6分钟
Practice Quiz2分钟
Pre-lecture Questions4分钟
Practice Quiz2分钟
Pre-lecture Questions4分钟
Practice Quiz4分钟
Pre-lecture Questions6分钟
Practice Quiz2分钟
Introduction. Human Genome8分钟

2

章节
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完成时间为 4 小时

Populational genetics

During this week, Yurii Aulchenko will teach you the basics of population and quantitative genetics. Population genetics is a branch of genetics that deals with genetic variation among individuals in a population. "Nothing in Biology Makes Sense Except in the Light of Evolution" is a quotation from a 1973 essay by the evolutionary biologist Theodosius Dobzhansky. The fundamental importance of population genetics lies in the insights it provides into the mechanisms of evolution, thus allowing geneticists to better understand the drivers behind the organization and functioning of human genomes. You will learn about such phenomena as population structure, selection and genetic drift. You will also learn about quantitative genetics, which studies how the genes and environment control variations in complex phenotypes....
Reading
7 个视频(共 59 分钟), 13 个阅读材料, 13 个测验
Video7 个视频
Hardy-Weinberg Equilibrium8分钟
Linkage Disequilibrium8分钟
Natural Selection11分钟
Genetic Drift9分钟
Genetic Structure12分钟
Week 2 Conclusion2分钟
Reading13 个阅读材料
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Glossary Week 210分钟
Quiz13 个练习
Pre-lecture Questions4分钟
Practice Quiz4分钟
Pre-lecture Questions6分钟
Practice Quiz4分钟
Pre-lecture Questions4分钟
Practice Quiz4分钟
Pre-lecture Questions4分钟
Practice Quiz2分钟
Pre-lecture Questions4分钟
Practice Quiz4分钟
Pre-lecture Questions2分钟
Practice Quiz4分钟
Populational Genetics14分钟

3

章节
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完成时间为 3 小时

Mendelian disorders

Mendelian or monogenic disorders are the kind of genetic disorders in humans that arise from a mutation in a single gene. These disorders run in families and can be autosomal or sex-linked depending whether the affected gene is located on autosomes or sex chromosomes, and they can also be dominant or recessive depending if one or two alleles are necessary to develop the disorder. The name “Mendelian” is used because these diseases follow simple monogenic patterns of inheritance, similar to these first studied by Gregor Mendel in pea plants. There are an estimated 8000 rare Mendelian diseases. Although each of them are very rare, collectively they affect millions of individuals world-wide. How can we find the variants and genes that are responsible for the development of these diseases? You will learn about “linkage analysis” – a technique that has been previously used for this purpose. You will also learn about Next-generation sequencing (NGS) technologies that have revolutionized the studies of Mendelian diseases in recent years. ...
Reading
6 个视频(共 51 分钟), 10 个阅读材料, 11 个测验
Video6 个视频
Linkage Analysis. Family Studies11分钟
NGS for Studying Monogenic Disorders — Part I7分钟
NGS for Studying Monogenic Disorders — Part II10分钟
NGS for Studying Monogenic Disorders — Part III11分钟
Week 3 Conclusion1分钟
Reading10 个阅读材料
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Mendelian disorders: discussion10分钟
Glossary Week 310分钟
Quiz11 个练习
Pre-lecture Questions2分钟
Practice Quiz2分钟
Pre-lecture Questions2分钟
Practice Quiz2分钟
Pre-lecture Questions2分钟
Practice Quiz2分钟
Pre-lecture Questions4分钟
Practice Quiz2分钟
Pre-lecture Questions2分钟
Practice Quiz2分钟
Mendelian Disorders10分钟

4

章节
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完成时间为 6 小时

Complex disorders

In contrast to Mendelian disorders that are controlled by a mutation in one gene, the multifactorial disorders are more complex, thus the name. These disorders are affected by an interplay of many genetic and environmental factors and also by a chance. Most of the human disorders, including prevalent types of diabetes, cardiovascular diseases, different cancers, are of such type. Although these disorders often cluster in families, they do not segregate in ways that are consistent with simple Mendelian inheritance. The methods used to find variants responsible for Mendelian disorders are not applicable for complex ones. Genome-wide association studies, or “GWAS” is a current method of choice to pinpoint the genetic variation predisposing to complex disorders. Yurii Aulchenko together with Lennart Karssen will tell you about this method and discuss its advantages and limitations. ...
Reading
10 个视频(共 88 分钟), 18 个阅读材料, 19 个测验
Video10 个视频
Introduction to Genome-Wide Association Studies. Historical Overview12分钟
GWAS Nowadays. Imputations10分钟
4.4. Analysis of Directly Genotyped and Imputed data. Significance of GWAS11分钟
4.5. Population Stratification and its Consequences10分钟
4.6. Analysis of Genetically Structured Populations9分钟
4.7. Meta-analysis of GWAS Results: Theory and Background6分钟
4.8. Quality Control of GWAS Array Data10分钟
4.9. Meta-analysis of GWAS Results: Practical Details8分钟
Week 4 Conclusion2分钟
Reading18 个阅读材料
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Recommended Pre-reading10分钟
Additional Materials10分钟
Additional Materials10分钟
Glossary Week 410分钟
Quiz19 个练习
Pre-lecture Questions4分钟
Practice Quiz4分钟
Pre-lecture Questions2分钟
Practice Quiz6分钟
Pre-lecture Questions2分钟
Practice Quiz2分钟
Pre-lecture Questions4分钟
Post-lecture Questions4分钟
Pre-lecture Questions2分钟
Post-lecture Questions4分钟
Pre-lecture Questions4分钟
Post-lecture Questions6分钟
Pre-lecture Questions2分钟
Post-lecture Questions4分钟
Pre-lecture Questions2分钟
Post-lecture Questions2分钟
Pre-lecture Questions2分钟
Quiz4分钟
Complex disorders26分钟
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创建者 JQDec 30th 2017

Fun and interesting course. Great review of material I had forgotten, sadly.

讲师

Marianna Bevova

PhD, Director of GIGA Doctoral School
University of Liège (GIGA)

Michel Georges

PhD, Professor, GIGA Research Director
University of Liège

Gert Matthijs

PhD, Professor
Center for Human Genetics, University of Leuven

Lennart Karssen

PhD, Owner and Chief Computational Scientist
PolyOmica

Natalia Aulchenko

M.Sc., Project manager
Theoretical and Applied Functional Genomics Laboratory

Yakov Tsepilov

PhD, Senior Researcher
Theoretical and Applied Functional Genomics Laboratory

Sodbo Sharapov

M.Sc, Junior Researcher
Theoretical and Applied Functional Genomics Laboratory

Alexander Tashkeev

Skolkovo Institute of Science and Technology (Skoltech), Junior Researcher
Laboratory of Computational and Structural Transcriptomics

Yurii Aulchenko

PhD, Professor, Head of Theoretical and Applied Functional Genomics Laboratory
Theoretical and Applied Functional Genomics Laboratory

关于 Novosibirsk State University

Novosibirsk State University (NSU) is a research university located in Novosibirsk Akademgorodok, the world-famous scientific center in Siberia. 80% of NSU teachers are active researchers affiliated with the Russian Academy of Sciences; therefore education is closely linked to world-class science: our students get first-hand knowledge about scientific discoveries before they are published. Nearly 6000 students (including international students from 37 countries) are enrolled at undergraduate and graduate programs offered by 13 departments. The leading areas of NSU expertise are natural sciences, life sciences, physics, math, IT, and more....

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