PPT-Rare vs. common gene variants

as guides to pain mechanisms and drug development Alban Latremoliere PhD ACCELERATING THE DEVELOPMENT OF PRECISION PAIN MEDICINE IMMPACT XIX Friday June 3rd 2016 Kirby Neurobiology Center. CampaignTracker. A brief overview of its design and function and what we have learned so far.. Background & Purpose. The . CampaignTracker. is a tool built to house Rare’s reporting tools and processes that provide a consistent global language with which to measure and assess the progress and quality of Rare’s work around the world.. Gil . McVean. There are no new questions in population genetics. …only new types of data. Genome sequences of entire populations. Data with linkage to deep phenotype information. Data from multiple species. Group A1. Caroline . Kissel. , Meg . Sabourin. , . Kaylee Isaacs, Alex Maeder. Introduction. Mutations that occur in DNA synthesis can result in a mutated gene that deters or completely denatures the protein it codes for . . . Parts of what’s known and a glimpse of what’s next…. Patrick Dion, . Ph.D. . Neurology and Neurosurgery. McGill . University. Human Genome Basics. 3 billions base . pairs.. Contains protein-coding and noncoding DNA.. for Colorectal . Cancer. Ulrike (. Riki. ) Peters. Fred Hutchinson Cancer Research Center. University of Washington. Overview. Significance and rationale. . Current efforts on rare and less frequent variants. Sarah . Brnich. , Gloria T. Haskell, . Daniel . Marchuk. and Jonathan S. Berg. . . Department . of Genetics, UNC-Chapel . Hill. INTRODUCTION. METHODS. We used . whole exome . sequencing (WES) . Sample & Methods. . 100 index cases (IC): 87 adults and 13 children; 8 were severe forms. . Identifies variants were traced in 36 relatives. NGS panel: LDLR, APOB, PCSK9, LDLRAP1 and APOE . (. heritability. (“GWAS and heritability”). peter.visscher@uq.edu.au. 1. The original definition of ‘missing heritability’. NB both are estimates that can be biased (up or down).  . 2. My 2009 presentation. genetic variants. BMMB 551 Genomics. Ross . Hardison. 4/7/15. 1. Published. GWA Reports, 2005 . – 6/2012. Total . Number. of Publications. Calendar Quarter. Through . 6/30/12 postings. 1350. GWAS catalog interactive browser. Brooke Rhead, Angie S. . Hinrichs. , Timothy R. . Dreszer. , Brian J. Raney, Robert M. Kuhn, Ann S. Zweig, Donna . Karolchik. , W. James Kent. Annotate your variants: . View gene alleles (haplotypes) from 1000 Genomes data: . American Journal of Obstetrics & Gynecology 2015. Alastair MacLennan. , Emeritus Professor Obstetrics & Gynaecology,. Suzanna Thompson. , . Paediatric. Neurology,. Jozef Gecz. , Professor of Neurogenetics Research. Version 10 Contact details Regional Genetics Service Levels 4 - 6, Barclay House 37 Queen Square London, WC1N 3BH T +44 (0) 20 7762 6888 F +44 (0) 20 7813 8 578 Samples required  5ml venous blood Goals of the diagnosis survey. Measuring the . time necessary to obtain a diagnosis. as a rare disease patient. Understand the . different steps. of the diagnosis journey . Define the . obstacles limiting the access . 11% of the edited variants were insertions and 4% were deletions.. RESULTS. Chromosome 29 was used to compare 1000 Bull Genomes Project run7 to local AGIL data.. 1000 Bull Genomes Project run 7 identified 149,684 variants on chromosome 29.