PPT-Variant Classification and Reclassification

Author : ida | Published Date : 2022-06-01

Introduction This slide presentation covers several topics pertaining to Variant classification reclassification and the V ariant C lassification P rogram VCP

Presentation Embed Code

Download Presentation

Download Presentation The PPT/PDF document "Variant Classification and Reclassificat..." is the property of its rightful owner. Permission is granted to download and print the materials on this website for personal, non-commercial use only, and to display it on your personal computer provided you do not modify the materials and that you retain all copyright notices contained in the materials. By downloading content from our website, you accept the terms of this agreement.

Variant Classification and Reclassification: Transcript

Introduction This slide presentation covers several topics pertaining to Variant classification reclassification and the V ariant C lassification P rogram VCP You may view the presentation in its entirety or click on one of the topics below to go directly to the relevant slides. Sedative hypnotics depress or slow down the bodys functions These drugs are commonly referred to as tranquilizers sleeping pills or sedatives They were originally developed to treat medical conditions such as epileptic seizures as well as to treat a Sample & Assay Technologies Ingenuity Variant Analysis 03/2014 Variant Analysisof disease biology. This Quick-Start Guide summarizes how to access the online application, upload data files, and perfo Deanna M. Church . Staff Scientist, NCBI. @. deannachurch. Short Course in Medical Genetics 2013. FASTQ. BAM. VCF. VCF. FASTQ. BAM. VCF. VCF. Steve Sherry, NCBI. http://. www.bioplanet.com. /. gcat. http://. . Updates and Upcoming Collaborations. Agenda . COGR overview . U. pdates. Current variant numbers. BRCA Manuscript. 4. Discussion. COGR Objectives. To create Canada’s unified, open-access, clinical-grade genetic database using a commonly shared platform. Karchin Lab. Department of Biomedical Engineering. Institute of Computational Medicine. Johns Hopkins University. SSID: . ASHGWORKSHOP. WiFi. Password. : . ASHGWORKSHOP. Select the SSID: . ASHGWORKSHOP. Introduction, Overview. Classification using Graphs. Graph classification – Direct Product Kernel. Predictive Toxicology example dataset. Vertex classification – . Laplacian. Kernel. WEBKB example dataset. Please sit down if you:. Are taller than 5’9”. Have blonde Hair . Have brown Eyes. Are left-Handed. Why Classify?. To study the diversity of life, biologists use a . classification . system to name organisms and group them in a logical manner. -Version 11 Working Group Pagehttps//clinicalgenomeorg/working-groups/sequence-variant-interpretation/Date Approved March 18 2018Changes from v1 Clarified that confirmed/assumed is with regards to par CODEREASON0102Position Attribute Change 03Change in Work Hours 04Advancement 05Organizational Transfer 06CC/IO Change07Employee Subgroup Change08Promotion CODEREASON09Demotion DEFINITIONChanges from Atul Kothari, MD FIDSA. Medical Director Healthcare Associated Infections Program. Associate Medical Director Infectious Diseases Branch. Disclosures. Off label use of some FDA EUA products will be discussed. Steven Harrison (. sharrison@bwh.harvard.edu. ). March 22, 2018. SVI. Updates. Reputable source (PP5/BP6) paper. Bayes paper. PVS1 (. LOF. ) recommendation. PS2/PM6 (De novo) recommendation. Reputable Source Letter to the Editor . ACMG/AMP Variant . Interpretation . guidelines . (. Richards et al 2015). Population. Data. In . silico. Data. Segregation . Data. Database. Prevalence in . affecteds. statistically increased over controls. ��Page of ContentsPurpose and scope................................Definitions................................Background and legislative context.......................Medicines Classific 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.

Download Document

Here is the link to download the presentation.
"Variant Classification and Reclassification"The content belongs to its owner. You may download and print it for personal use, without modification, and keep all copyright notices. By downloading, you agree to these terms.