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Genomic Technologies in Clinical Diagnostics
Next Generation Sequencing
Fiona Howat,
Kate Tatton-Brown,
Katie Snape,
and
Amy Frost (Mentor)
Fiona Howat,
Kate Tatton-Brown,
Katie Snape,
and
Amy Frost (Mentor)
Topics Covered
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Topics Covered
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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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Focuses on the use of NGS in diagnosing diseases. It provides a comprehensive examination of the wide range of clinical applications, highlighting the potential of NGS to optimize healthcare and identify disease-causing variants.
Provides a comprehensive guide to RNA sequencing, a key application of NGS. It covers experimental design, data analysis, and interpretation, providing readers with a solid foundation in understanding and using RNA-Seq data.
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.
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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.
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.
Provides a comprehensive overview of genome bioinformatics, with a focus on the computational methods used to analyze genome data.
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Provides a comprehensive overview of bioinformatics, with a focus on the practical applications of this field.
Provides a comprehensive overview of statistical methods used in bioinformatics, including methods for analyzing genome data.
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Provides a personal account of the Human Genome Project, written by one of its leaders, James D. Watson.
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Provides a comprehensive overview of CRISPR-Cas gene editing technology, including its methods and applications.
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Provides a comprehensive overview of genomics, with a focus on the latest developments in the field.
Provides a comprehensive overview of bioinformatics, with a focus on the essential concepts and methods used in the field.
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