PPT-Transforming Mutation Testing

from the Technology of the Future into the Technology of the Present Paul Ammann 2015 Mutation Workshop Keynote Graz Austria April 13 2015 1 A Poll How many of you Agree Disagree. Jesus. Cabral MD. Alejandro Navas. . MD MSc. Enrique . O.. . Graue-. Hernández. . MD MSc. Arturo Ramirez. -. Miranda. . . MD. Beatriz . Buentello. . Ph. D. Juan Carlos . Zenteno. . A. frameshift. B. missense. C. neutral. D. silent. E. transition. REEF Question. A normal 90 . bp. length of DNA gives rise to a 30 amino acid polypeptide after transcription and translation. An A. G. Hillier M. 1,. & Crisp G. 2. 1. Teaching and Education Development Institute, . University of Queensland, Australia. 2. RMIT University, Australia. Contact Presenter: Dr Mathew Hillier m.hillier@uq.edu.au. On behalf of the North of England Cancer Network Lung NSSG. Dr Naomi Chamberlin, Dr Ann Ward. Aims. Overview of brief. Method. Contributing Trusts. Results. Discussion. Overview of brief. To gather data on all patients with a diagnosis of non-small cell lung cancer across the Network for whom specimens have been sent for EGFR mutation testing.. Updated Summer 2015. by J. D. Hendrix. Mutations: Definitions. Lethal . mutation: results in death of the cell, and therefore cannot be propagated or studied. Conditional mutation: One that is expressed only under certain environmental conditions; for example, a temperature-sensitive mutation. Alex Groce, Josie Holmes, Darko Marinov,. August Shi. , Lingming Zhang. ICSE Demo 2018. Gothenburg, Sweden. May 30, 2018. CCF-1409423. CCF-1421503. CCF-1566589. Mutation Testing. Goal: . E. valuate the quality of test suites. Lecture # . 4. Derived from “. mutare. (. muta. )” – to change . change in form, quality, or some other characteristic . A permanent change in DNA sequence is called mutation Or. At initial diagnosis . 0. At first relapse . 0. At second relapse . Medical Oncologists. Gynecologic Oncologists. 12. 0. 0. 12. 2. In general, what type of mutation testing do you order for patients with ovarian cancer at initial diagnosis?. Changes in the genetic material. Mutations can occur in two different types of Cells:. 1. Somatic (body) cells. 2. Gamete (sex or germ) cells. Mutations in somatic cells. Usually result in killing that body cell only.. Abdelbagi M. Ali. 1. , 2. , . Izzat. S.A. Tahir. 2. , . Abdalla. M.A.. . Kurmut. 2. ,. . Sufian. M. Suliman. 2. ,. . Nasrein. M.K. Omer. 2. , . Tahani. Y. Elagib. 2. , Pierre Lagoda. 1. and Brian Forster. Beyond the Genome 2012. Informatics Workshop, Sep 27, 2012. Josh Stuart, UC Santa . Cruz. “It . is entirely in line with the accidental nature of mutations that . … . the vast . majority [are] . detrimental. John A. Clark, . Haitao. Dan, Robert M Hierons. An example: cruise control. Question. What happens in . no_vehicle_in_front. if brake and level=increase?. Another question. What happens in . no_vehicle_in_front. MISTAKES IN DNA. A MISTAKE CAN BE:. 1. A point mutation – substitution, addition, or removal of a single DNA base.. 2. A . frameshift. mutation – . a point mutation due to an addition . or deletion of a DNA base that causes a major change in the genetic code.. Is a natural process that changes a DNA sequence.. Mutant or Mutation – to describe something undesirable or broken.. Rarely cause death or disease. Generates new variations that can give an individual a survival advantage..