PPT-Pathway-based analysis of mutation impact

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. Jesus. Cabral MD. Alejandro Navas. . MD MSc. Enrique . O.. . Graue-. Hernández. . MD MSc. Arturo Ramirez. -. Miranda. . . MD. Beatriz . Buentello. . Ph. D. Juan Carlos . Zenteno. . Biostat. & . Bioinfo. short course series. Jianying Li. The Road to Pathway Analysis. Adapted from Werner (2008), Current Opinion in Biotech., 19:50-64. Next Gen RNA-Seq. Acknowledgment. QB for kindly organization. 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. GENETIC MUTATIONS. 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 . David Pryor. Mutation-Based Testing. Same basic goal as Code Coverage. Evaluate the tests. Determine “how much” code exercised. Mutation testing goes beyond checking which lines of code were executed. 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?. 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. 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. The types of proteins an organism possesses depend upon the . sequence of nucleotides. The two main types of gene mutations include:. Point mutation: one base pair is replaced for another base pair.. 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.. Steven Hallam | University of British Columbia. SRI International, 2013. Overview. Through the looking glass…. Environmental Pathway/Genome Databases. MetaPathways. Pipeline Development. 2. Metabolism.