PPT-ASHG Workshop Classifying and Interpreting Germline and Somatic Variants in Your Large

Author : tatyana-admore | Published Date : 2018-03-19

Karchin Lab Department of Biomedical Engineering Institute of Computational Medicine Johns Hopkins University SSID ASHGWORKSHOP WiFi Password ASHGWORKSHOP Select

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ASHG Workshop Classifying and Interpreting Germline and Somatic Variants in Your Large: Transcript

Karchin Lab Department of Biomedical Engineering Institute of Computational Medicine Johns Hopkins University SSID ASHGWORKSHOP WiFi Password ASHGWORKSHOP Select the SSID ASHGWORKSHOP. Andrew Morris. Advanced Topics in GWAS. Toronto, 30 May 2012. Introduction. GWAS have been successful in detecting . novel loci for complex traits:. typically characterised by common variants of modest effect;. 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. Liz Cirulli. Assistant Research Professor. Duke Center for Applied Genomics and Precision Medicine (CAGPM). 4/27/15. Advantages to studying healthy variation. Most “healthy” traits not studied genetically at all. Validation. Alona . Sosinsky. Magdalena Zarowiecki. Cristina Aguilera. Shirley Henderson. 2. 17 September 2018. Scope. 3. 17 September 2018. The validation . report covers Genomics England pipeline for reporting somatic small variants (SNVs and . @. deannachurch. Short Course in Medical Genetics 2013. Deanna M. Church . Senior Director of Genomics and Content. Personalis, . Inc. Analyzing and interpreting variants. Analytical Validity. Clinical Validity. Dr Katie Snape. Joint Lead Consultant for Cancer Genetics,. South West Thames Regional Genetics Service. St George’s University Hospitals NHS Foundation Trust. Approval ID: GB-17285. Date of Preparation: June 2019. We performed a genome-wide analysis of gene expressionto identify germline- and sex-regulated genes.Using mutants that cause defects in germ cell proliferationor gametogenesis, we identiÞed sets of g CancerGenetics@utsouthwestern.edu | 214 - 645 - 2563 Somatic and Germline Genetic Testing Somatic Testing Most cancer is the result of acquired, or somatic , mutations that occur in a cell. Cancers Exomes. /WGS. Ramesh Nair. May 31, 2013. Outline. Types of genetic variation. Framework for variant discovery. Variant calling methods and variant callers. Filtering of variants. Structural variants. (CHARGE-S). Eric Boerwinkle. Washington DC. April 7, 2010. Overall Objective. “This . proposed research will leverage existing population, laboratory and computational resources to identify susceptibility . Harriet Feilotter, PhD, FCCMG, FACMG. Professor, Dept of Pathology and Molecular Medicine, Queen’s U. Director, Molecular Genetics, KHSC. 2. Disclosures. I have the following financial relationships to disclose: . testing . pathways. Format. Round table discussion . 5 working groups . –. Breast, Colorectal, Ovarian, Other, TP53. Three documents on table. Individual variant testing scoring form (all to complete). State University of Campinas (UNICAMP). School of Medicine. Hematology and . Transfusion Medicine . Center - Hemocentro. Sara Teresinha . Olalla. Saad. Campinas – São Paulo, . Brazil. 2016. Region = 2 717 478 inhabitants . Long Term Outcomes of Children and Young Adults with Cancer. Rajen. . Mody. , M.D., M.S. . – . Co-Project Lead, . Pediatric . Oncologist. Arul . Chinnaiyan. , M.D., Ph.D.. –. Co-Project Lead, .

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