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. 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. 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, . Related . Disorders. Somatic Symptom Disorder: . DSM-5. Cornerstone diagnosis of this category. Main feature is the presence of one or more somatic symptoms that cause distress or impairment in daily living. http://io9.gizmodo.com/10-unusual-genetic-mutations-in-humans-470843733. Unharmful. Mutations. Mila . Kunis. has complete . heterochromia. . Kate Bosworth has . sectoral. . heterochromia. . Angelina Jolie has central . Factitious Disorder and Malingering. APM Resident Education Curriculum. Thomas W. Heinrich, M.D.. Associate Professor of Psychiatry & Family Medicine, Chief, Psychiatric Consult Service at Froedtert Hospital. Point mutations. single base change . silent mutation. no amino acid change. redundancy in code. missense. change amino acid. Changes the final protien. nonsense. change to stop codon. Stopping prematurely . Given a mutation, identify its type. Predict how a mutation will affect a protein.. Mutations. Changes in genetic material (DNA). 2 main types of mutations. Point mutation- change in one or a few nucleotides (letters). Understand how they occur. Analyze the different types of mutations. Understand how mutations affect amino acid sequences and proteins. Objective. Central Dogma. DNA is transcribed into RNA, RNA is translated into proteins. Conditional mutations. Point mutations. In . point mutations . the sequence of the DNA has been altered at a single position. Where this change consists of replacing one nucleotide by another, it is known as a . and . Related . D. isorders . Yasin Ibrahim, MD. Assistant Professor of Psychiatry. Texas Tech University Health Sciences Center. Case 1: chronic pain. Michelle Adams, a 51-year-. old a hair dresser, with no prior psych . Science. Learning intention. To understand the different types of mutations. . You will need. A pen and a piece of paper or a laptop to record your answers. . You may need the internet to search for answers. . organised. , small . embryoids. resembling the zygotic embryos from the embryo . genic. potential somatic plant cell of the callus tissue or cells of suspension culture is known as somatic embryogenesis. mutation. Mutations. Actual Mutations . in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA. A mutation can occur in an individual gene. - results in a single changed protein. 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:.