PPT-Cancer Sequencing 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. 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. Learning Objectives. Recap how DNA probes and DNA hybridisation is used to locate specific genes.. Learn how the exact order of nucleotides on a strand of DNA can be determined.. Learn how restriction mapping can be used to determine nucleotide sequences.. Method to sequence longer regions. cut many times at random (. Shotgun. ). genomic segment. Get one or two reads from each segment. ~500 bp. ~500 bp. Reconstructing the Sequence . (Fragment Assembly). MOLECULAR BIOLOGY TECHNIQUES II.. Polymerase Chain Reacton – PCR. DNA sequencing. Amplification of specific DNA fragments. MOLECULAR BIOLOGY – PCR. Cloning and/ or isolation from a genomic library . Stefano . Lise. Bioinformatics & Statistical Genetics (BSG) Core. The . Wellcome. Trust Centre for Human Genetics (WTCHG), Oxford. Email: stefano@well.ox.ac.uk. Outline. Human genetic variation in health and disease. :. informatics & software aspects. Gabor T. Marth. Boston College Biology . Department. BI543 Fall 2013. January 29, 2013. Traditional DNA sequencing. Genetics of living organisms. DNA. Chromosomes. 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.. 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. DNA sequencing. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC. Ion . Mandoiu. Computer Science and Engineering Department. University of Connecticut. Outline. Background on high-throughput sequencing. Identification of tumor-specific . epitopes. Estimation of gene and . 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. How we obtain the sequence of nucleotides of a species. …ACGTGACTGAGGACCGTG. CGACTGAGACTGACTGGGT. CTAGCTAGACTACGTTTTA. TATATATATACGTCGTCGT. ACTGATGACTAGATTACAG. ACTGATTTAGATACCTGAC. TGATTTTAAAAAAATATT….