PPT-Calling Somatic Mutations using VarScan

Read the documentation httpdkoboldtgithubiovarscan https githubcom dkoboldt varscan blobmasterVarScanv241descriptiontxt Read the Paper 1 Koboldt DC Zhang Q Larson DE . 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. Mendelian. Genomics. www.mendelian.org. gmendel@mendelian.org. Goal: Identify and define the causes of all human . monogenic diseases. Explain human biology. Allow diagnostic testing important for disease prevention, therapy and prognosis. Twelfth Edition. Chapter 12. Gene Mutation. © McGraw-Hill Education. All rights reserved. Authorized only for instructor use in the classroom. No reproduction or further distribution permitted . without . (Chapter 12 Section 4). Mutation. - . A . Change in Genetic . Information . Causes . can be: . 1. ) . Genetic (DNA proofreader does not catch mistakes) . in Replication . or Protein Synthesis. . 2. University of L’Aquila. Genetics of . skin. . cancer. Cristina . Pellegrini. , PhD. University of L’Aquila. Chieti, 19 June 2019. Agenda. Skin cancers can be . inherited. : clinical impact of . susceptibility genes . eMERGE. datasets. Ken Kaufman. CCHMC. 6-20-19. Somatic Mutations. RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. Keren . Yizhak. , François . Aguet. , . Jaegil. cancer genomes. Matthew Meyerson, M.D., Ph.D.. Dana-Farber Cancer Institute. Harvard Medical School. Broad Institute. Bioconductor. Conference. Dana-Farber Cancer Institute. Boston, Massachusetts. July 31, 2014. Mutations. and . polymorphisms. Genetics. and . genomics. ED . 01. . March. . 20. 19.. 2. Geneti. c . variability. I. ncreased. . by . - . S. exual. . reproduction . meiosis (generation of gametes. CancerGenetics@utsouthwestern.edu | 214 - 645 - 2563 Somatic and Germline Genetic Testing Somatic Testing Most cancer is the result of acquired, or somatic , mutations that occur in a cell. Cancers 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. Presented by: . Amit Levi. Class of 2022. Mentor:. Dr. . Xinbin. Chen. Department of Surgical & Radiological Sciences. P53 is a major tumor suppressor known as the “guardian of the genome”.. Dr. Cyrus Boelman. Neurology, BC Children’s Hospital. CLAE Biennial Meeting 2016. Disclosures. None. Case . A. Germline. Mutation. Case . A. 3.5 month old term, non-. dysmorphic. boy. West syndrome:. glioblastoma. genes and core pathways. By: Katie . Adolphsen. , Robin Aldrich, Brandon . Hu. , . Nate . Havko. The Cancer Genome Atlas: TCGA. Collaborative effort . $100 million pilot project. Funded by National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health.