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NGS for Clinical Diagnostics


Held in conjunction with Next-Gen Sequencing and Mass Spectrometry

18 Aug 2016, at 9.00 am to 5.00 pm in New Delhi

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About the Course

This training course is designed to provide comprehensive knowledge about the need and importance of utilizing Next Generation Sequencing for genome analysis with special reference to its utility in clinical diagnostics. 

Course Contents

1. Introduction to Genome Analysis: The tools of molecular biology. Starting with cloning in plasmids through cosmids, yeast artificial chromosomes and bacterial artificial chromosomes. How they can be used to derive physical maps of complex genomes. Genetic linkage mapping. Then how the two together can be integrated to begin to build maps of chromosomes

2. Sequencing of the Human Genome: How the physical and genetic maps provided the framework for building a map and then how Sanger sequencing was utilized to fill in the gaps. What does the human genome sequence tell us about human genome organization.

3. Microarrays in Genome Sequence: Various types of microarrays. Starting with microarrays for analyzing gene expression. How to do a microarray experiment and make sense out of the data. Whole genome tiling arrays. What tiling arrays taught us about genome transcription. The non-coding portion of the genome. Description of microarrays for analyzing transcript isoforms. Finally, microarrays for genetic linkage analysis and SNPs.

4. Next Generation Sequencing: The history of next generation sequencing. Starting with 454 and how it used massively parallel sequencing. Then onto Illumina and the revolutions in sequencing brought about by this technology. I’ll also discuss Ion Torrent, Pacific Biosciences, Oxford Nanopore and what is coming.

5. Gene Expression Analysis using NGS: How to use next generation sequencing to characterize and  (RNAseq). Details about how NGS is completely replacing microarrays for analyzing gene expression and  how to set up an RNAseq experiment (depending upon what you want to identify) and how to analyze the resulting data.

6. Whole Genome Sequencing: Using NGS to characterize small gene panels all the way up to whole exome sequencing. How to set up an experiment of this type. How to make sense out of the resulting data. Finally, I’ll discuss validation of the results obtained. How these technologies are being used in the clinic today and how they will be used in the near future.

7. Clinical Application of NGS: Whole genome sequencing assembling genomes based upon reference genomes and finally de novo sequencing. Clinical applications of WGS, both now and in the near future.

8. NGS in Cancer Research: How to use all these technologies to better understand the role that human papillomavirus plays in the development of different cancers. Mate-pair sequencing and what it tells us. Direct clinical applications including the development of the liquid biopsy using digital droplet PCR to monitor cancer treatments.

Who Should Attend

Scientists, Medical Doctors and Researchers from different streams of life sciences working in the field of molecular biology, genomics and genetics especially towards molecular and clinical diagnosis of human diseases. The course is suitable for the all such researchers who have basic knowledge of NGS and other molecular biology techniques.  

David Smith

David Smith, Professor, Mayo Clinic