PPT-Genetic Testing in the Genome Era

Arend Sidow PhD Professor Departments of Pathology and Genetics Stanford An introduction that includes the most important concepts in Genetics and Genome Biology 1 Genotype Phenotype Genetic Testing. Denovo genome Denovo genome outline outline novogenome from contigs from assembled contigs annotation Denovo genome Denovo genome Reads contig Gene Gene Annotation Gene Annotation Forgene Timetable for today. Time. Activity. 00:00. Introduction to the session. 00:10. Story cards . 00:20. Info cards. 00:30. Issue cards. 00:40. Discuss two key. issues. 00:45. Feedback your issues. What is DNA?. Risks and Benefits of Knowing Your Genetic Makeup. Julie Hopp. Genetic Screening: Who Should Be Tested. CDC’s 2004 Science Ambassador Program. Overview. Genetics Review. Types of Genetic Disorders. Ben Ho Park MD PhD. Johns Hopkins University. Financial Disclosures. I have financial relationships with commercial entities that are relevant to the content of this presentation.. Royalties from Horizon Discovery, LTD. Baku 13 Oct 2016. Roland . Brandenburg. M-ERA.NET coordinator. FFG, Austria. (Pre-). History: FP6-FP7. MNT-ERA.NET . MATERA(+). . MNT-ERA.NET (2004-2008): micro & nano technologies. MATERA (2005-2011): materials. Laura . K. Fisher. , MS, CGC. Director . of Genetic . Counseling. October . 8, 2019. Outline. Genetic counseling. What happens at a genetic counseling appointment? . Who should see a genetic counselor?. Hardison. . Genomics 2_2. 1/7/15. 1. Y Chromosome. 3 billion bp = 3 Gb. Chr1 247 Mb. Chr12 132 Mb. Chr22 50 Mb. A human . genome (. male). The . genome. is . all the DNA. in a cell.. All the DNA on all the chromosomes. BMI/CS 776 . www.biostat.wisc.edu/bmi776/. Spring 2022. Daifeng. Wang. daifeng.wang@wisc.edu. These slides, excluding third-party material, are licensed under . CC BY-NC 4.0. . by Mark Craven, Colin Dewey, Anthony . How common are BRCA1 and BRCA2 mutations in the general population? Inherited mutations in BRCA1 and BRCA2 are relatively uncommon in the general population. The carrier frequency is estimated to rang Huntington Society of Canada 151 Frederick St., Suite 400, Kitchener ON N2H 2M2 1-800-998-7398 info@huntingtonsociety.ca www.huntingtonsociety.ca Charitable Registration Number 11896 5516 RR0001 Wh Page 1 of 28 UnitedHealthcare Commercial Medical Policy Effecti ve 10/01/2021 Proprietary Information of UnitedHealthcare. Copyright 202 1 United HealthCare Services, Inc. UnitedHealthcareCommercia Object 40 : What is it? The human genome is a complete list of the three billion base pairs that make up our genetic information. The pairs of bases make up long strings of DNA that are arranged in Iwema. , . PhD, MLS, AHIP. 19. th. March 2014. Molecular Biology Information Service. 1997. Outline. Context. Personal Genomics. Personalized Medicine. Consumer Impact. Context. Broad Timeline of Genetics. Cori Chandler, MPA. Sr. Manager, State & Local Campaigns – Access to Care. Genetic Testing. 2. Genetic Testing. What is it?. The testing of a person’s germline genes. This testing is typically performed using biospecimens such as blood or cells.