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Fiona Howat, Kate Tatton-Brown, Katie Snape, and Amy Frost (Mentor)

Most FutureLearn courses run multiple times. Every run of a course has a set start date but you can join it and work through it after it starts. Find out more This course is designed for scientists and healthcare professionals with an interest in obtaining a postgraduate-level understanding of genomic sequencing technologies. If you are completing both Genomic Technologies in Clinical Diagnostics courses, we recommend that you complete Genomic Technologies in Clinical Diagnostics: Molecular Techniques first. And if you are new to the field, we recommend that before you start either course, you complete The Genomics Era: the Future of Genetics in Medicine – the first in the Genomics in Healthcare program from St George’s. You can use the hashtag #FLgentechNGS to talk about this course on social media.

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Most FutureLearn courses run multiple times. Every run of a course has a set start date but you can join it and work through it after it starts. Find out more This course is designed for scientists and healthcare professionals with an interest in obtaining a postgraduate-level understanding of genomic sequencing technologies. If you are completing both Genomic Technologies in Clinical Diagnostics courses, we recommend that you complete Genomic Technologies in Clinical Diagnostics: Molecular Techniques first. And if you are new to the field, we recommend that before you start either course, you complete The Genomics Era: the Future of Genetics in Medicine – the first in the Genomics in Healthcare program from St George’s. You can use the hashtag #FLgentechNGS to talk about this course on social media.

Topics Covered

  • The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing
  • Overview of Next Generation Sequencing platforms and their methodology
  • Targeted resequencing
  • Alignment, variant calling and annotation
  • Other applications of Next Generation Sequencing beyond DNA sequencing
  • Next Generation Sequencing in gene discovery
  • Gene discovery in the research and diagnostics
  • Next Generation Sequencing in clinical diagnostics: Single gene, gene panel sequencing, exome and genome sequencing
  • How to design a gene panel
  • The 100 000 Genomes project
  • The transforming NHS: Genomics in mainstream practice

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Reviews summary

In-depth genomics for clinical diagnostics

According to learners, this course provides an in-depth and relevant exploration of Genomic Technologies in Clinical Diagnostics, focusing heavily on Next Generation Sequencing (NGS). Many appreciate its comprehensive coverage of topics from NGS platforms to variant calling and gene panel design. Students find the content highly relevant for healthcare professionals and scientists aiming for a postgraduate-level understanding. However, some learners note the course's demanding nature and the crucial need for strong prerequisites, emphasizing that prior knowledge in molecular techniques is highly beneficial to fully grasp the complex subjects presented.
Focuses on the theoretical underpinnings of genomic technologies.
"The course provides a solid theoretical background, which is essential for understanding the nuances of NGS."
"I appreciated the deep dive into the methodology behind various sequencing platforms."
"While comprehensive, I felt it could benefit from more hands-on or practical examples."
Highly relevant for professionals in clinical diagnostics.
"The content directly applies to my work in clinical diagnostics, especially gene panel design."
"I found the discussions on the transforming NHS and clinical utility invaluable."
"It effectively bridges the gap between theoretical genomic science and real-world clinical application."
Offers a deep dive into genomic technologies & applications.
"I really gained a comprehensive understanding of Next Generation Sequencing and its clinical applications."
"The course covers a broad range of genomic technologies, from fundamental platforms to advanced variant analysis."
"It provides an excellent overview of current genomic projects like the 100,000 Genomes project."
Requires strong prior knowledge for optimal understanding.
"I found the course challenging without having completed the recommended prerequisite molecular techniques course."
"It assumes a significant level of existing knowledge in genetics and molecular biology."
"To truly benefit, I recommend having a solid foundation before diving into this advanced material."

Career center

Learners who complete Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing will develop knowledge and skills that may be useful to these careers:

Reading list

We've selected 31 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 Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing.
This comprehensive book explores the translation and implementation of genomic information into healthcare. It covers the foundations of genomic medicine and its practical applications, including those derived from genome sequencing. It valuable resource for those interested in the clinical impact of genomics.
Offers a step-by-step approach to NGS data analysis for a wide range of applications, including RNA-seq, variant discovery, and clinical sequencing. The second edition includes new chapters on single-cell RNA-seq and clinical sequencing, reflecting contemporary topics. It's a practical guide for practitioners in life sciences, bioinformatics, and biostatistics.
Is directly relevant to genome sequencing as it covers the computational methods used to analyze sequence and genome data. It is an excellent resource for understanding the bioinformatics side of genome sequencing. It serves as both a textbook and a reference for students and professionals.
Provides a direct and comprehensive overview of genomes, their structure, and analysis. It is highly relevant to the topic of genome sequencing and covers various aspects of genomics. It good resource for gaining a broad understanding.
Provides a comprehensive guide to NGS data analysis, covering various applications like genome assembly, variant discovery, and metagenomics. It's suitable for researchers and graduate students and can serve as a textbook, offering detailed analysis steps rather than just black-box pipelines.
Provides a detailed guide to DNA sequencing protocols, including sample preparation, library preparation, and sequencing analysis. It valuable resource for researchers who are new to DNA sequencing or who want to improve their sequencing skills.
Focusing specifically on human genetics, this book delves into the molecular aspects of human genes and genomes. It is highly relevant for understanding the application of genome sequencing in human health and disease. valuable reference and is used in advanced undergraduate and graduate courses.
Focuses on the applications of genomics, including genome sequencing, in human biology and medicine. It is highly relevant for understanding the practical uses of genome sequencing technology. It valuable resource for students and professionals in related fields.
Offers a plain-language introduction to the informatics methods and tools for analyzing NGS data. It covers experimental design, data preprocessing, alignment, and assembly, with updated information and new chapters on emerging technologies. It's suitable for students, laboratory scientists, and computing specialists.
Covers the principles behind genome analysis and the broader field of genomics. It provides a solid foundation for understanding the methodologies and applications related to genome sequencing. It is suitable for advanced undergraduates and graduate students.
Compiles chapters on various aspects of NGS, including genomics, transcriptomics, methylomics, platforms, and bioinformatics challenges. It examines advances and challenges of NGS applications in research, providing insights into contemporary topics.
This practical book focuses on analyzing genomic data using cloud infrastructure and open-source tools like GATK, Docker, and WDL. It's highly relevant for professionals and researchers dealing with large-scale NGS data analysis in a cloud environment, covering contemporary computational approaches.
Offers a comprehensive introduction to genetics, bridging Mendelian genetics with molecular discoveries. It provides a solid understanding of genes and genomes, which is directly relevant to genome sequencing. It is often used as a textbook in introductory genetics courses.
Specifically addresses the computational techniques used in genome analysis. It good resource for those interested in the algorithms and statistical methods behind genome sequencing data analysis. It is suitable for advanced undergraduate and graduate students with a computational background.
A classic and comprehensive textbook in molecular biology and genetics, Lewin's Genes provides in-depth coverage of gene structure, function, and regulation. While not solely focused on sequencing, it offers essential background knowledge for a deep understanding of the subject. It widely recognized reference in the field.
Provides a broad introduction to bioinformatics and its application in functional genomics, which is closely related to understanding the output of genome sequencing. It widely used textbook in bioinformatics programs.
Introduces the fundamental concepts of RNA-seq experiments and guides readers through the data analysis process. It covers experimental design, quality control, alignment, quantification, and differential gene expression analysis, valuable for those focusing on transcriptomics.
Explores recent advances in NGS instrumentation and data analysis, with contributions from experts. It covers current NGS platforms, sequencing chemistries, and applications in various fields, providing a broad overview of the technology and its uses.
Foundational text in bioinformatics, covering the probabilistic models used to analyze biological sequences. While not exclusively about genomes, the techniques described are fundamental to genome sequencing data analysis. It classic reference for graduate students and researchers.
This foundational text in cell and molecular biology, providing essential prerequisite knowledge for understanding genome sequencing. It covers the fundamental principles of DNA structure, function, and gene expression, which are critical for grasping the concepts in genome sequencing. It is widely used as a textbook in undergraduate and graduate programs.
Focuses specifically on NGS technology in the context of DNA analysis. It likely covers the technical aspects of the sequencing platforms and their applications in DNA sequencing projects.
Covers bioinformatics methods ranging from omics technologies to next generation sequencing. It provides a broader context within the 'omics' field and then focuses on methods relevant to NGS data.
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Provides a practical guide to DNA sequencing, including choosing the right sequencing technology, preparing samples, and analyzing data. It valuable resource for researchers who are new to DNA sequencing or who want to improve their sequencing skills.
Focuses on practical data skills for bioinformatics using open-source tools, which is essential for working with NGS data. While not exclusively about NGS, it provides foundational knowledge in data manipulation, programming, and reproducible research, highly valuable for anyone analyzing sequencing data.
This popular science book offers a compelling and accessible journey through the human genome, dedicating each chapter to a chromosome. While not a technical textbook, it provides a broad understanding of the history, evolution, and implications of our genes, making the topic engaging for a wider audience, including high school students and those new to the field.
A classic text in molecular biology, this book provides fundamental knowledge about genes and their functions. While earlier editions predate widespread genome sequencing, it offers essential historical context and foundational principles that are still relevant. It is valuable for understanding the origins of the field.
Focuses on the algorithmic foundations of bioinformatics. Understanding these algorithms is crucial for comprehending how NGS data is processed and analyzed. It's a good resource for those wanting to delve deeper into the computational aspects.
Presents the foundations of computational molecular biology and bioinformatics, with a focus on computational and statistical principles applied to genomes. While not solely focused on NGS, it provides essential background in the algorithms and statistics necessary for analyzing sequencing data.
Offers an overview of classical bioinformatics concepts. While not solely focused on NGS, it provides essential foundational knowledge in the field, making it useful as a preparatory text for understanding the broader context of NGS data analysis.
Provides a laboratory manual for DNA sequencing. It valuable resource for researchers who are new to DNA sequencing or who want to improve their sequencing skills.

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