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Texto: Hughes Group: Genome Biology — Radcliffe Department of Medicine Cookies on this website We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings. Continue Find out more Site Map Accessibility Cookies Contact us Log in Home About us About us Our Divisions Our Clinical Facilities and MRC Units Working at RDM Athena SWAN News Seminars Locations and contact details Research People Study with us Work with us Current vacancies Novo Nordisk - Oxford Fellowships For Staff Contacts, travel and maps Personnel Finance, Grants and Funding Facilities, IT and Health and Safety Graduate Studies Career Development Athena SWAN Communications and public engagement Search About us Our Divisions Nuffield Division of Clinical Laboratory Sciences Research in NDCLS Hughes Group: Genome Biology Hughes Group: Genome Biology jim.hughes@imm.ox.ac.uk MRC Molecular Haematology Unit MRC Weatherall Institute of Molecular Medicine Nuffield Division of Clinical Laboratory Sciences © Martin Phelps Molecular biology and the biological sciences in general have undergone a technical revolution over the last decade, due to our ability to sequence and reconstruct an organism's genomic blueprint in its entirety. Subsequent technical advances such as high-throughput sequencing technologies (HTS) allow us to investigate, on the scale of the whole genome, how and in what situations particular parts of that blueprint are actually used. Although the biological questions remain the same as those asked at an individual gene, the methods to generate, analyse and combine these whole-genome data-types are different and require specialist approaches and skills. A fundamental question in molecular biology is how are specific parts of the genomic blueprint used in specific situations when the underlying genomic sequence is the same in every cell in the body? The most basic expression of a genome's activity is the RNA it produces or "expresses" from genes as messenger RNA (mRNA), which are the templates needed to build particular proteins. Although many mechanisms exist that can alter this gene “expression” it is now known that a class of elements in the genome, often called “regulatory elements” or “enhancers”, are critical controllers of gene activity in every cell. Studying these elements can be very challenging as they are generally only active in the specific cell types where they are needed and they are distributed unpredictably around the genes they control, often at very large genomic distances; hence linking a gene with its functioning regulatory elements is challenging. Although finding ways of interrogating these systems addresses a fundamental biological question, it also has profound implications for human health. It is now known from comprehensive “Genome-Wide Association Studies” (GWAS) that the sequence variations in each of our genomes that pre-dispose us all to common human diseases likely effect these regulatory elements rather than the genes themselves. It is equally likely that genetic damage to these elements will be a poorly diagnosed cause of heritable diseases.    The Hughes group is expert in a wide range of the genomics methods and technologies that can address different aspects of this question: such as RNA-seq methods, which show whether a gene is expressed or not and at what level; DNase-seq and ATAC-seq, which can generate maps of all of the active elements in the genome; and ChIP-seq, which can assess which types of proteins or chemical modification are found at these elements and so indicate their likely function. Where suitable approaches are not available, the group develops novel methods such as the Capture-C approaches, which allow thousands of genes to be linked to their regulatory elements in a single assay. Developed with the specific problem of linking GWAS hits to the genes they effect, this assay is the only high resolution Chromatin Conformation Capture (3C) assay that multiplexes both viewpoints and cell samples in a single assay and so maps the interactions between genes and regulatory elements with high throughput, sensitivity and statistical rigour.   Due to the huge amounts of data these technologies generate, the group has an equally large computational component, with many members having expertise in both.  Our team Jim Hughes Professor of Gene Regulation Damien Downes Postdoctoral Researcher Matthew Gosden DPhil Student Ravza Gur DPhil Student Caz Harrold DPhil Student Lance Hentges DPhil Student Priscila Hirschfeld Martin Larke Post Doctoral Researcher Marieke Oudelaar Junior Research Fellow Ron Schwessinger DPhil Student Martin Sergeant JavaScript Developer Related research themes Haematology and Pathology Computational Biology, Statistics and Bioinformatics Genetics, Genomics and Genome Biology © 2020 Radcliffe Department of Medicine Freedom of Information Privacy Policy Copyright Statement Accessibility Statement Site Map Accessibility Cookies Contact us Log in About us Our Divisions Investigative Medicine Division Nuffield Division of Clinical Laboratory Sciences Research in NDCLS Hughes Group: Genome Biology Oxford Centre for Diabetes, Endocrinology and Metabolism Division of Cardiovascular Medicine MRC Weatherall Institute of Molecular Medicine MRC Weatherall Institute of Molecular Medicine Our Clinical Facilities and MRC Units Acute Vascular Imaging Centre Cardiovascular Clinical Research Facility Oxford Centre for Clinical Magnetic Resonance Research Working at RDM Equal career opportunities and flexible working Career development and training Athena SWAN News Seminars Locations and contact details Research Cardiovascular Science Haematology and Pathology Diabetes, Metabolism and Endocrinology Cancer Biology Immunology and Infection Stem Cells and Developmental Biology Geratology Experimental Therapeutics Ashrafian Group: Experimental Therapeutics and Clinical Pharmacology Mahmod group Tyler Group Lunter Group: Functional Genomics & Machine Learning Lunter Group Chapman Group: Genome stability and DNA repair mechanisms in cancer and genome diversification Patel Group People Moustafa Abdalla Ines Abdesselam Adib Abdullah Amanda Adler Satish Adwani Devika Agarwal Olorunsola Agbaje Doaa Ahmed Jila Ajeian Nadia Akawi Naveed Akbar Nasren Akhtar Ioannis Akoumianakis Merve Aksoz Marta Perez Alcantara Yara Alenazi Affaf Aliouat Jack Allen Maryam Alsharqi Sneha Anand Amanda Anderson Agata Antepowicz Charalambos Antoniades Alex Antonopoulos Mahesh Appari Andrew Apps Janhavi Apte Rina Ariga Andrew Armitage Alyssa Armsby Linda Arnold


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