Fundamentals of Clinical Genomics

Transcription

1 Fundamentals of Clinical Genomics Wellcome Genome Campus Hinxton, Cambridge, UK January 2018 Lectures and Workshops to be held in the Rosalind Franklin Pavilion Lunch and Dinner to be held in the Hinxton Programme Wednesday, 17 January 10:00-11:00 Registration with morning coffee 11:00-11:15 Welcome and introduction 11:15-13:15 Session 1: Variation in the human genome Aim of session: to understand the architecture of the human genome and the scale of natural variation. 13:15-14:15 Lunch 11:15 The scale and variety of variation in the human genome 11:45 Mutations great and small 12:30 Statistical analysis of large scale genomic data in human health & disease Jeff Barrett 1

2 14:15-16:15 Session 2: Genes and transcription Aim of session: to review the following concepts: functional organisation of the genome and the topography of a gene; the central dogma (DNA->RNA- >protein); DNA transcription and mrna splicing; the role of microrna s in RNA silencing and post-transcriptional regulation of gene expression. 16:15-16:45 Afternoon tea 14:15 What s in a genome? 14:45 Transcription and splicing 15:30 Roles of RNA 16:45-18:15 Session 3: Gene regulation and gene-environment interactions Aim of session: to discuss how genes are regulated. With a stable nuclear genome, how do cells differentiate into different tissues with characteristic patterns of gene expression? We will also review imprinting and the differential expression of maternal and paternal genes. 18:15-18:45 Free time 16:45 Epigenetics Richard Gibbons 17:30 Imprinting Richard Gibbons 18:45-19:15 Opportunity for trainees to have tutorial discussions based on content covered during the day Sarah Smithson, University of Bristol, UK Kate Tatton-Brown, St George s University, UK 18:45-19:30 Pre-dinner drinks Hall Foyer 19:30 Dinner 2

3 Thursday, 18 January 08:00-08:45 Breakfast 09:00-11:00 Session 4: Mosaicism and molecular mechanisms of disease Aim of the session: to understanding the origin of mutations, the concepts of germline and somatic mutation and their fundamental implications in development and disease. 11:00-11:30 Morning coffee 09:00 Mosaicism, germline and somatic mutations - lessons from DDD 09:30 Somatic mosaicism, lessons from cancer Kate Tatton-Brown St George s University, UK 10:00 How mutations lead to disease concepts of dominance and recessivity lessons from craniosynostosis and other disorders Andrew Wilkie 10:30 How mutations lead to disease: role of transcription factors - lessons from embryology David FitzPatrick MRC Human Genetics Unit, UK 11:30-13:00 Session 5: Resources Aim of session: introduction to some of the resources used in filtering and interpreting data from genome-wide assays. 13:00-14:00 Lunch 11:30 Introduction to ExAC, gnomad and constraint scores Kaitlin Samocha 12:15 Tools used in DECIPHER 14:00-16:00 Session 6: Variant interpretation (workshop 1) Aim of session: An opportunity to interrogate and interpret variant data 16:00-16:30 Afternoon tea, Julia Foreman and the DECIPHER team 3

4 16:30-17:30 Session 7: Bioinformatics Aim of session: to understand the pathway from DNA sequencing to variant interpretation. 16:30 Bioinformatic analysis of exome and genome data for clinical genomics Peter Robinson The Jackson Laboratory, USA 17:30-18:30 Session 8: Teaching genomics/understanding of genomics in society Aim of session: Clinical Geneticists are in great demand to teach genetics and genomics. This session will give a brief introduction to a variety of teaching approaches, and an awareness of the rich resources available to support education. 18:30-19:15 Free time 17:30 Encouraging conversations about genomics Steve Scott Wellcome Genome Campus, UK 17:50 Clinical Geneticists-our evolving role as educators Sarah Smithson University of Bristol, UK 18:10 Embracing new approaches developing a MOOC for clinical genomics Kate Tatton-Brown St George s University, UK 18:45-19:15 Opportunity for trainees to have tutorial discussions based on content covered during the day Sarah Smithson, University of Bristol, UK Kate Tatton Brown, St George s University, UK 19:15 Dinner Friday, 19 January 07:45-08:30 Breakfast 08:30-10:15 Session 9: Evaluating results from genome-wide sequencing assays Aim of the session: to understand the importance of contemplating the purpose and scope of a genomic investigation, and the prior expectation of a given diagnosis in the evaluation of results from genome-wide investigations. 08:30 Specificity and sensitivity lessons from public health Caroline Wright University of Exeter, UK 09:15 An ABC of Clinical Genomics, 4

5 10:15-10:45 Morning coffee 09:30 Bayesian approaches to interpretation of NGS data for patients with craniosynostosis and other disorders Andrew Wilkie 10:45-12:00 Session 10: Next-generation phenotyping Aim of session: to review opportunities for large-scale data-analysis of phenotypes. 12:00-13:00 Lunch 10:45 Human phenotype ontology Peter Robinson The Jackson Laboratory, USA 11:15 Next-generation phenotyping David FitzPatrick MRC Human Genetics Unit, UK 11:45 Aggregating data to build knowledge 13:00-14:30 Session 11: DECIPHER (workshop 2 - ACMG tool and Assessment tool) :00 Course summary and wrap-up 15:00-16:00 Tour of Wellcome Trust Sanger Institute sequencing facilities Led by members of the Wellcome Genome Campus Public Engagement team 16:00 Depart 5