PPT-Spectrum of genetic variants associated with Familial Hypercholesterolemia and phenotype

Sample amp 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 . Review. Why is genetics important?. Genetics. -the study of how genes bring about characteristics (traits) in living things and how those traits are inherited . Genes. Portions of DNA molecules that determine characteristics of living things. in familial breast cancer . . can . lie deep in . family . tree. San Ming . Wang. University of Nebraska Medical Center. Genetically defined breast cancer. Sporadic . B. reast . C. ancer . caused by . obesity-associated . intergenic long noncoding . RNAs. Project for “Solving Biological Problems that require Math”. Jennifer Tan. Intergenic. long noncoding RNAs. Pervasive transcription of eukaryotic genomes (not just in protein-coding regions). in familial breast cancer . . can . lie deep in . family . tree. San Ming . Wang. University of Nebraska Medical Center. Genetically defined breast cancer. Sporadic . B. reast . C. ancer . caused by . Hypercholesterolaemia. Dr. Rosemary Croft. 15. th. . May 2013. Familial . Hypercholesterolaemia. 1 in 500 affected. Genetic – autosomal dominant. Untreated 50 develop CVD by age 55. DNA test costs £320. Developed by . Ms. . Shawna . Morrison, Dr. Judith . Allanson. and Dr. June Carroll. Last updated . October 2016. Disclaimer. This presentation is for educational purposes only and should not be used as a substitute for clinical judgement. GEC-KO aims to aid the practicing clinician by providing informed opinions regarding genetic services that have been developed in a rigorous and evidence-based manner. Physicians must use their own clinical judgement in addition to published articles and the information presented herein. GEC-KO assumes no responsibility or liability resulting from the use of information contained herein. . Tt. Tall. tt. Short. The answer is _______ because: . Review from Objective 1. Which of the following depicts a dominant genotype? (tall – dominant, short – recessive). Tt. Tall. tt. Short. The answer is _______ because: . Dominant Trait. “Stronger” trait. Will show as long as gene is present. Represented by capital letter (B). Recessive Trait. “Weaker” trait. Needs to have 2 to show up. Represented by lowercase letter (b). Presenter: Scarlett Varney. Authors: Scarlett Varney, Kevin Batcher, Leigh Anne Clark, Robert . Rebhun. , Danika . Bannasch. Image from Tarah Schwartz, . The Complete Guide to Poodles. Why does size matter?. 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 . 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. Genetics Pedagogies Project. Annie Jamieson (A.K.Jamieson@leeds.ac.uk). Source: Aaron Harvey/ . Flikr. Source: . lanmccorWikimedia. Commons. Autosomal recessive. Autosomal dominant. X-linked recessive. Clement Ma. Sequence Analysis Workshop. May 21, 2015. Lecture slides adapted from Hyun Min Kang and . Gonçalo. . Abecasis. Outline. Introduction. Data overview. Analysis of common variants. Analysis of low-frequency variants. Dr Deep Shah, . Clinical. . Lead UCL Partners. Dominic . Studart. , North Thames GMSA Familial . Hypercholesterolaemia. Project Nurse . Aims. What is FH? . Diagnosing FH. Implementing UCLPartners FH Searches .