PPT-Update on an investigation of somatic mutations in

eMERGE datasets Ken Kaufman CCHMC 62019 Somatic Mutations RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues Keren Yizhak François Aguet Jaegil. Driver Mutations NextgenerationDNA sequencing gene: somatic mutation Recurrent mutations/mutated genes drivermutationsDistinguish functional (driver) mutations from background passenger) mutations. Re 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. Failing to cure the majority of advanced solid . tumours. Declining therapeutic benefits at higher drug . cost. Drug resistance highly complex: . Approx. 10% of kinases alter resistance to one or more drugs . Read the documentation. http://dkoboldt.github.io/varscan. /. https://. github.com. /. dkoboldt. /. varscan. /blob/master/VarScan.v2.4.1.description.txt. Read the Paper. 1. . Koboldt. DC, Zhang Q, Larson DE, . 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 . 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 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.