Slide 1Bristol Genetics Laboratory Familial Hypercholesterolaemia: LIPOchip ® experience Laura Yarram Bristol Genetics Laboratory Slide 2 What is FH?  Autosomal Dominant…

Slide 1VUS: The clinician’s view Mary Porteous On behalf of Scottish Clinical Geneticists Slide 2 Data gathering  Contacted clinical geneticists and genetic counsellors…

Molecular mechanisms of bacterial resistance to antimicrobial agents Sanath Kumar1 and Manuel F. Varela2 1QC Laboratory, Harvest and Post Harvest Technology Division, Central…

Slide 1www.iccg.org A Unified Clinical Genomics Database NHGRI - U41 Genomic Resource Grant Slide 2 Variant Analysis for General Genome Report 3-5 million variants ~20,000…

Slide 1Themes: Immune evasion by viruses Zoonoses: transmission to humans Viruses as prophylactics Slide 2 Themes 1. Cell, tissue and host tropism of viruses 2. Arthropod…

Slide 1 Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G. Mulle, Valerie…

Slide 1 Hereditary Colorectal Cancer Syndromes Philip Kam Queen Elizabeth Hospital Slide 2 Overview  Features and genetics basis  Screening  Surveillance protocol…

Slide 1 Bristol Genetics Laboratory 2010 Congenital Central Hypoventilation Syndrome; a polyalanine repeat disorder- the UK cohort Sarah Burton-Jones Bristol Genetics Laboratory…

Slide 1 Genome-wide analysis of noncoding regulatory mutations in cancer Nils Weinhold, Anders Jacobsen, Nikolaus Schultz, Chris Sander & William Lee 1 Computational…

Slide 0 Bioinformatics 0 Bioinformatics Sequence information Mapping information Phenotypic information Literature Prediction programs Gene prediction Promotor prediction…