PPT-Discovery of Structural Variation with Next-Generation Sequencing

Alexandre Gillet Markowska Alexandregilletmarkowskaupmcfr Gilles Fischer Team Biology of Genomes UMR7238 Laboratory of Computational and Quantitative Biology Université Pierre et MarieCurie Paris. Next-generation shotgun sequencing approaches require sequencing every base in a sample several times for two reasons: Variant Calling. Ramesh Nair. 9/12/2012. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. 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.. Elaine R. . Mardis. – 11 . February. . 2008. Washington School of Medicine, Genome Sequencing Center.. Presented by . Jacob . Juhn. “If one accepts that the fundamental pursuit of genetics is to determine the genotypes that explain phenotypes, the meteoric increase of DNA sequence information applied toward that pursuit has nowhere to go but up.”. Dr Gavin Band. Wellcome. Trust Advanced Courses; Genomic Epidemiology in Africa. , . 21. st. – 26. th. June 2015. Africa . Centre for Health and Population Studies, University of KwaZulu-Natal, Durban, South Africa. 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 . y = . kx. , where k ≠ 0. . The constant of variation for a direct variation . k. is the coefficient of . x.. Example of direct variation. : The time it takes to hear thunder varies directly with the distance from lightning. (As the distance from lightning increases, so does the time it takes you to hear the thunder!). Key Issues and Trends. Marshall Breeding. Independent Consult, Author, . Founder and Publisher, Library Technology Guides. http://www.librarytechnology.org/. http://twitter.com/mbreeding. July 25, 2012. :. Challenges and Opportunities in the era of Precision Medicine. Dr. Paul . Keown, . 2016. Statement of Conflict & Collaboration. Therapeutics collaborations. Novartis, Roche, . Astellas. , Shire. Clinical Implementation in CLIA/CAP facility. Shashikant Kulkarni, M.S (Medicine)., Ph.D., FACMG. Associate Professor of Pediatrics, Genetics, Pathology and Immunology. Medical Director of Genomics and Pathology Services. Exomes. /WGS. Ramesh Nair. May 31, 2013. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. Ramesh Nair. 9/12/2012. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. 9/12/2012. Variant Calling. Newburger. What is Cancer?. Definitions. A class of diseases characterized by malignant growth of a group of cells. Growth is uncontrolled. Invasive and Damaging. Often able to metastasize. An instance of such a disease (a malignant tumor).