Edinburgh Research Explorer

Colin Semple

Personal Chair of Computational Biology

Profile photo

Willingness to take PhD students: Yes

Bioinformatics
Regulatory Genomics
Molecular evolution

Education/Academic qualification

Doctor of Philosophy (PhD), University of Edinburgh
Maintenance of inversion polymorphism in Drosophila
Bachelor of Science, Edinburgh Napier University
Biological Sciences

Biography

Since 2001 I have led the Bioinformatics Analysis Core at the MRC Institute of Genetics and Molecular Medicine (IGMM), one of the largest UK MRC research establishments supporting approximately 500 scientists. We provide computational collaborative expertise to IGMM experimental research groups, and also large research consortia such as the Scottish Genomes Partnership. I am a committee member of the Genetics Society, the EpiGeneSys EU-wide network of excellence in epigenetics and systems biology, various MRC review panels and journal editorial boards. My PhD was in population genetics at the University of Edinburgh (1994), followed by postdoctoral stints at the University of Michigan and Trinity College Dublin exploring the first genome sequences derived from yeast and worms. In 1998 I joined the MRC Human Genetics Unit, studying the initial human genome sequence to understand human disease predisposition. These interests have continued to the present, with a current focus on gene regulation and structural variation in cancers and developmental disorders.

My research in a nutshell

The genes embedded in your genome have complex patterns of activity and particular constellations of genes must be active at particular times for biological processes, such as embryonic development, to conclude successfully. I am interested in the fundamental biology of gene regulation: when, how and why genes are turned on and off. We try to understand the mechanisms underlying gene regulation, using computational analyses of genomic datasets, and how these mechanisms are impacted by alterations in the structure of the genome. This can provide new insights into human evolution and help us interpret disease processes with abberant regulation, such as cancers.

Current Research Interests

Genome structure, mutation and human disease

Cancer genomics and tumour evolution

Population genomics in human isolate populations

Regulatory genomics and mammalian evolution

Highlighted research outputs

  1. Pan-cancer analysis of whole genomes

    Research output: Contribution to journalArticlepeer-review

  2. Modeling double strand break susceptibility to interrogate structural variation in cancer

    Research output: Contribution to journalArticlepeer-review

  3. Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types

    Research output: Contribution to journalArticlepeer-review

  4. A promoter-level mammalian expression atlas

    Research output: Contribution to journalArticlepeer-review

  5. Transcriptional Dynamics Reveal Critical Roles for Non-coding RNAs in the Immediate-Early Response

    Research output: Contribution to journalArticlepeer-review

  6. Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

    Research output: Contribution to journalArticlepeer-review

  7. Widespread signatures of recent selection linked to nucleosome positioning in the human lineage

    Research output: Contribution to journalArticlepeer-review

  8. Rapidly evolving human promoter regions

    Research output: Contribution to journalLetterpeer-review

  9. The transcriptional landscape of the mammalian genome.

    Research output: Contribution to journalArticlepeer-review

  10. POCUS: mining genomic sequence annotation to predict disease genes

    Research output: Contribution to journalArticlepeer-review

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Research activities & awards

  1. The University of Edinburgh Lets Talk about Health Public Lecture Series

    Activity: Participating in or organising an event typesPublic Engagement – Public lecture/debate/seminar

  2. Edinburgh Cafe Scientifique

    Activity: Participating in or organising an event typesPublic Engagement – Public lecture/debate/seminar

  3. Why I became a scientist

    Activity: Participating in or organising an event typesPublic Engagement – Schools engagement

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