PPT-Clinical interpretation of genomic variants

Harriet Feilotter PhD FCCMG FACMG Professor Dept of Pathology and Molecular Medicine Queens U Director Molecular Genetics KHSC 2 Disclosures I have the following financial relationships to disclose . A collaborative platform for variant interpretation and sharing in rare disorders. .. Jawahar Swaminathan, Ph.D.. Aiding the interpretation of genomic variants since 2004. Primary Objective. Facilitate identification and interpretation . Sarah Dean. Lecture Overview. Types of Samples. Types of Stains. Interpretation of results. Clinical . vs. Research. How do we ensure those results are valid?. Use of controls. UK NEQAS scheme. Types of analyses/statistical tests. Wild. West of Precision Cancer Medicine. Kenna R Mills Shaw. MD Anderson Cancer Center. Institute for Personalized Cancer Therapy. January 29, 2018. I have nothing to disclose.. I will not discuss off-label use.. Genomic Medicine. In announcing on June 26, 2000, that the first draft of the human genome had been achieved, President Clinton said it would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”. National Human Genome Research Institute. National Institutes of Health. U.S. Department of Health and Human Services. U.S. Department of Health and Human Services. National Institutes of Health. National Human Genome Research Institute. 19 May 2014. Jim Evans MD, . Ph.D. University of North Carolina at Chapel Hill. Accomplishments, Challenges and Opportunities. Green & . Guyer. . Nature; 470:204.2011. Medical Science = Clinical Care. Dr Howard L. McLeod. Medical Director, DeBartolo Family. Personalized Medicine Institute. Chair, Department of Individualized Cancer Medicine. Senior Member, Division of Population Sciences. State of Florida Endowed Chair. Abstr. . 16462. Causative variants. Benefits of knowing causative variant. Supports an exact test . (particularly useful for undesirable conditions). No linkage decay when used in evaluation . Increased reliability of genomic evaluations as causative variants replace less informative SNP. ForewordOne secret weapon has helped beat every disease outbreak over the last century but it is not masks or social distancing lockdowns or even vaccines Instead it is data Data tells us which masks (Abstract 58). J.B. Cole. 1,*. K.L. Parker Gaddis. 2. , C. Willard. 1. , D.J. Null. 1. , C. Maltecca. 3. , and J.S. Clay. 4. 1 . Animal Genomics and Improvement Laboratory, ARS, USDA, Beltsville, MD, USA. ? . An . introduction to human . genomics. Jacques Fellay. EPFL School of Life Sciences. Swiss Institute of Bioinformatics. Lausanne, Switzerland. What is . the genome?. “It's . a . shop manual. , with an incredibly detailed blueprint for building every human cell.. Louise Medley. Consultant Medical Oncologist & Cancer Clinical Lead SW GLH. SWAG OG CAG March 24. th. 2023. WHY?. Prevention. Early Diagnosis. Neo-adjuvant . Adjuvant . Palliative. Living with Cancer . Chris Wragg, Lead Cancer Scientist, SWGLH. 6. th March 2019. Contents. 100,000 Genomes Project. National update. Update on the future genomic medicine service. National delivery of 100,000 . Genomes . Working together towards a common strategy . Overview. Implementing Genomic Medicine. Vision. Scope & Purpose. Background. SNOMED CT Strategy . (what & how). Strategic objectives. Next steps.