PPT-Cancer Next Generation Sequencing

Clinical Implementation in CLIACAP facility Shashikant Kulkarni MS Medicine PhD FACMG Associate Professor of Pediatrics Genetics Pathology and Immunology Medical Director of Genomics and Pathology Services. Next-generation shotgun sequencing approaches require sequencing every base in a sample several times for two reasons: DNA Sequencing. Platforms:. Evolving Tools for . Cancer Research. Norma Neff. Bioengineering / Quake Lab. Sequencing Core Director. Stem Cell Institute. SIM1 G1115 / G0821. nfneff@stanford.edu. Emulsion PCR-based Sequencing Technologies. Assembly, and Alignment Methods . Andy Nagar. Agenda. Background. Next Generation Sequencing. Sequence Assembly. Sequence Alignment. Traditional Alignment Algorithms. Next Generation Alignment Algorithms. INTRODUCTION . The most commonly used technology until a few years ago – BAC. WHOLE GENOME SEQUENCING. ADVANTAGES OF WGS. Utility of next – gen sequence reads . The next-generation platforms are effecting a complete paradigm shift, not only in the organization of large-scale data production, but also in the downstream bioinformatics, IT, and LIMS support required for high data utility and correct interpretation.. Hardison. Genomics . 3_2. 1. 1/20/14. Second generation sequencing. Michael . Metzker. review. (2010) Nature Reviews Genetics . 11. : 31-46. 1/20/14. 2. Two generations of sequencing technology. Feature.  . Nearly . all modern DNA sequencing procedures require a concentrated amount of . single-stranded . DNA known as a . template. . A template is simply a piece of DNA of . sufficient . length and quality to allow for its sequencing (most sequencing methods . Next-generation sequencing technology. Outline. First generation sequencing. Next generation sequencing (current). AKA: . Second generation sequencing. Massively parallel sequencing. Ultra high-throughput sequencing. :. Challenges and Opportunities in the era of Precision Medicine. Dr. Paul . Keown, . 2016. Statement of Conflict & Collaboration. Therapeutics collaborations. Novartis, Roche, . Astellas. , Shire. Hardison. Genomics 3_1. 1. 1/20/14. nucleo. s. ides. A nucleo. t. ide has one or more phosphates attached to the 5’ hydroxyl of the (deoxy)ribose. Building blocks of DNA. 1/20/14. 2. Structure of a dinucleotide. Laboratory of Personalized Genomic Medicine . Peter L. Nagy M.D., Ph.D. Assistant Professor. Associate Director, Laboratory of Personalized Genomic Medicine. Department of Pathology and Cell Biology. for suspected cancer Information for patients and family members Genomic Medicine Service NHS What is your genome? Your genome is the information needed to build the human body and keep it health Alexandre . Gillet-. Markowska. Alexandre.gillet-markowska@upmc.fr. Gilles Fischer Team – . Biology. of . Genomes. . UMR7238. Laboratory . of Computational and Quantitative Biology. Université Pierre et Marie-Curie, Paris. - An overview of the technology. - Analysis software. - Fetal fraction (FF). - What is fetal fraction?. - Why fetal fraction is used. - Dynamic fetal fraction. Module 6:. NGS and Fetal . F. raction. the DNA sequencing?. DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule. . The . sequence tells scientists the kind of genetic information that is carried in a particular DNA segment.