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. Andrew Gentles. CCSB NGS workshop. September 2012. You’ve slogged through QC, trimming, alignment, realignment, variant calling. What next ?. Mutational processes molding the genomes of 21 breast cancers/The life history of 21 breast cancers. Credits for slides: Dan . 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. Assembly, and Alignment Methods . Andy Nagar. Agenda. Background. Next Generation Sequencing. Sequence Assembly. Sequence Alignment. Traditional Alignment Algorithms. Next Generation Alignment Algorithms. Lenka Veselovská. Laboratory of Developmental Biology and Genomics . Next Generation Sequencing (NGS) . M. odern high-throughput DNA sequencing technologies. parallel, rapid . Decreasing price, time, workflow complexity, error rate. A I . Bhat. Indian Institute of Spices Research. Calicut. DNA sequencing. Chain termination method . (. Sangers. . et a. l., 1977): In this method, the sequence of a single stranded DNA molecule is determined by enzymatic synthesis of complementary polynucleotide chains, these chains terminating at specific nucleotide positions.. 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. for Colorectal . Cancer. Ulrike (. Riki. ) Peters. Fred Hutchinson Cancer Research Center. University of Washington. Overview. Significance and rationale. . Current efforts on rare and less frequent variants.  . 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. Analysis 2015. - RNA-sequencing . Jonas Andreas . Sibbesen. & Lasse Maretty. Bioinformatics Centre, University of Copenhagen . Bioinformatics Centre. Next Generation Sequencing Analysis 2015 - RNA-seq. 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. Cynthia N Perry, PhD. Assistant Academic Dean of Admissions. Assistant Professor, Molecular Medicine. Department of Medical Education. Foster School of Medicine. https://. youtu.be. /KiQgrK3tge8. Genomics and Healthcare. 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 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).