Dr Dirk Paul | Visiting Scientist

Paul, Dirk

Dirk's research focuses on the functional translation of genetic variants associated with cardiovascular traits and diseases into biological insights.

I graduated with a BSc and MSc in Life Science from the University of Konstanz (Germany) in 2008. During my studies at university, I gained experience in molecular biology and genomics approaches at the Max Planck Institute for Molecular Genetics (Berlin, Germany), A*STAR Institute of Bioengineering & Nanotechnology (Singapore), Boehringer Ingelheim Pharma GmbH & Co. KG (Biberach, Germany) and at the Wellcome Trust Centre for Human Genetics (Oxford, UK). In 2012, I completed a PhD in Molecular Biology and Genetics as a Marie Curie PhD Fellow at the Wellcome Trust Sanger Institute and University of Cambridge, where I applied experimental and computational methods to aid the identification of functional variants associated with blood cell and cardiovascular traits. I then did postdoctoral studies in epigenomics of immune-related diseases as part of the BLUEPRINT Consortium at University College London. I joined the Cardiovascular Epidemiology Unit at the University of Cambridge as Team Leader and University Lecturer in Integrative Human Genomics in 2015.

Publications

  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.

    Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM et al.

    Genome biology 2017;18;1;18

  • Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

    Paul DS, Teschendorff AE, Dang MA, Lowe R, Hawa MI et al.

    Nature communications 2016;7;13555

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

    Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D et al.

    Cell 2016;167;5;1415-1429.e19

  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

    Chen L, Ge B, Casale FP, Vasquez L, Kwan T et al.

    Cell 2016;167;5;1398-1414.e24

  • Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.

    Paul DS, Albers CA, Rendon A, Voss K, Stephens J et al.

    Genome research 2013;23;7;1130-41

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

    Albers CA, Paul DS, Schulze H, Freson K, Stephens JC et al.

    Nature genetics 2012;44;4;435-9, S1-2

  • Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

    Paul DS, Nisbet JP, Yang TP, Meacham S, Rendon A et al.

    PLoS genetics 2011;7;6;e1002139

  • Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

    Howson JMM, Zhao W, Barnes DR, Ho WK, Young R et al.

    Nature genetics 2017;49;7;1113-1119

  • Neutrophil-mediated IL-6 receptor trans-signaling and the risk of chronic obstructive pulmonary disease and asthma.

    Farahi N, Paige E, Balla J, Prudence E, Ferreira RC et al.

    Human molecular genetics 2017;26;8;1584-1596

  • Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.

    Cheung WA, Shao X, Morin A, Siroux V, Kwan T et al.

    Genome biology 2017;18;1;50

  • Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.

    Ecker S, Chen L, Pancaldi V, Bagger FO, Fernández JM et al.

    Genome biology 2017;18;1;18

  • UroMark-a urinary biomarker assay for the detection of bladder cancer.

    Feber A, Dhami P, Dong L, de Winter P, Tan WS et al.

    Clinical epigenetics 2017;9;8

  • Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

    Paul DS, Teschendorff AE, Dang MA, Lowe R, Hawa MI et al.

    Nature communications 2016;7;13555

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

    Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D et al.

    Cell 2016;167;5;1415-1429.e19

  • The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery.

    Stunnenberg HG, International Human Epigenome Consortium and Hirst M

    Cell 2016;167;5;1145-1149

  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

    Chen L, Ge B, Casale FP, Vasquez L, Kwan T et al.

    Cell 2016;167;5;1398-1414.e24

  • eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.

    Breeze CE, Paul DS, van Dongen J, Butcher LM, Ambrose JC et al.

    Cell reports 2016;17;8;2137-2150

  • PhenoScanner: a database of human genotype-phenotype associations.

    Staley JR, Blackshaw J, Kamat MA, Ellis S, Surendran P et al.

    Bioinformatics (Oxford, England) 2016;32;20;3207-3209

  • Correlation of an epigenetic mitotic clock with cancer risk.

    Yang Z, Wong A, Kuh D, Paul DS, Rakyan VK et al.

    Genome biology 2016;17;1;205

  • Quantitative comparison of DNA methylation assays for biomarker development and clinical applications.

    BLUEPRINT consortium

    Nature biotechnology 2016;34;7;726-37

  • A donor-specific epigenetic classifier for acute graft-versus-host disease severity in hematopoietic stem cell transplantation.

    Paul DS, Jones A, Sellar RS, Mayor NP, Feber A et al.

    Genome medicine 2015;7;128

  • Advances in epigenome-wide association studies for common diseases.

    Paul DS and Beck S

    Trends in molecular medicine 2014;20;10;541-3

  • Assessment of RainDrop BS-seq as a method for large-scale, targeted bisulfite sequencing.

    Paul DS, Guilhamon P, Karpathakis A, Butcher LM, Thirlwell C et al.

    Epigenetics 2014;9;5;678-84

  • Functional interpretation of non-coding sequence variation: concepts and challenges.

    Paul DS, Soranzo N and Beck S

    BioEssays : news and reviews in molecular, cellular and developmental biology 2014;36;2;191-9

  • Assessment of patient-derived tumour xenografts (PDXs) as a discovery tool for cancer epigenomics.

    Guilhamon P, Butcher LM, Presneau N, Wilson GA, Feber A et al.

    Genome medicine 2014;6;12;116

  • Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.

    Paul DS, Albers CA, Rendon A, Voss K, Stephens J et al.

    Genome research 2013;23;7;1130-41

  • Seventy-five genetic loci influencing the human red blood cell.

    van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N et al.

    Nature 2012;492;7429;369-75

  • A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.

    Nürnberg ST, Rendon A, Smethurst PA, Paul DS, Voss K et al.

    Blood 2012;120;24;4859-68

  • Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

    Albers CA, Paul DS, Schulze H, Freson K, Stephens JC et al.

    Nature genetics 2012;44;4;435-9, S1-2

  • Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

    Paul DS, Nisbet JP, Yang TP, Meacham S, Rendon A et al.

    PLoS genetics 2011;7;6;e1002139

Paul, Dirk
Dirk's Timeline
2015

University Lecturer at the Department of Public Health and Primary Care, University of Cambridge

Visiting Scientist at the Wellcome Trust Sanger Institute

2012

Postdoctoral Research Associate with Prof Stephan Beck at the UCL Cancer Institute

2009

PhD Student with Prof Panos Deloukas at the Wellcome Trust Sanger Institute