Professor Raymond Dalgleish

Professor of Human Genetics

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Tel: +44 (0)116 252 3425

Fax: +44 (0)116 252 3378




Personal details

  • BSc (Glasgow), PhD (London)

I studied for an undergraduate degree in Cell Biology at the University of Glasgow. However, a stint as a summer student in 1975 at the Beatson Institute for Cancer Research, Glasgow, convinced me that my real interest lay in human molecular genetics. I completed my PhD in 1980 at St Mary's Hospital Medical School, London, under the supervision of Professor Bob Williamson, cloning human globin cDNA and gene sequences.

In 1980, I was awarded a Fogarty International Fellowship to allow me to undertake my post-doctoral studies at the National Institutes of Health, Bethesda, Maryland, USA. Working in the Pulmonary Branch of the National Heart Lung and Blood Institute, I cloned and analysed cDNA and genomic sequences for human collagen types I and III.

In 1984, I was appointed to the post of Lecturer in the Department of Genetics, continuing my work on collagen genes specifically with respect to sequence variants that result in inherited connective tissue disorders. This work resulted in the setting up of databases of gene variants that give rise to osteogenesis imperfecta (OI) and to some of the Ehlers-Danlos syndromes (EDS).

The data were initially collected for just three genes but this has now expanded to more than twenty-five and there are plans to further extend the repertoire. These variant data can be view at Osteogenesis Imperfecta Variant Database and Ehlers-Danlos Syndrome Variant Database.

I am a member of the "Gene and Disease Specific Database Advisory Committee" and of the "International Scientific Advisory Committee" of the Human Variome Project.

I am a member of the Sequence Variant Description Committee of the Human Variome Project.

I am a member of the Medical and Scientific Board of the Ehlers Danlos Society.

I am a member of the core coordinating group of the Musculoskeletal GeCIP Domain for the UK 100,000 Genomes Project.



Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R (2018) VariantValidator: accurate validation, mapping and formatting of sequence variant descriptions. Human Mutation, 39: 61-68.

Parkin JD, San Antonio JD, Persikov A, Dagher H, Dalgleish R, Jensen ST, Jeunemaitre X, Savige J (2017) The collagen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles. PloS One, 12: e0175582.

Dalgleish R, Bishop NJ, Pollitt R (2016) Re: What if the prenatal diagnosis of a lethal anomaly turns out to be wrong? Pediatrics, eLetter:

Dalgleish R (2016) LSDBs and how they have evolved. Human Mutation, 37: 532-539.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux A-F, Smith T, Antonarakis SE, Taschner PEM (2016) HGVS recommendations for the description of sequence variants: 2016 update. Human Mutation, 37: 564-569.

Lancaster O, Beck T, Atlan D, Swertz M, Veal C, Dalgleish R, Brookes AJ. (2015) Cafe Variome: general-purpose software designed to make genotype-phenotype data easily and appropriately discoverable in restricted or open access contexts. Human Mutation; 36: 957-964.

Zhao S, Li G, Dalgleish R, Vujovic S, Jiao X, Li J, Simpson JL, Qin Y, Ivanisevic M, Ivovic M, Tancic M, Al-Azzawi F, Chen Z-J. (2015) Transcription factor SOHLH1 potentially associated with premature ovarian failure. Fertility and Sterility, 103: 548-553; doi: 10.1016/j.fertnstert.2014.11.011.

Qin Y, Jiao X, Dalgleish R, Vujovic S, Li J, Simpson JL, Al-Azzawi F, Chen Z-J. (2014) Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure. Fertility and Sterility, 101: 1104-1109; doi: 10.1016/j.fertnstert.2014.01.001.

MacArthur JAL, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P, Flicek P, Dalgleish R, Maglott DR, Cunningham F (2014) Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Research, 42: D873-D878; doi: 10.1093/nar/gkt1198.

Gaspar P, Lopes P, Oliveira J, Santos R, Dalgleish R, Oliveira JL (2014) Variobox: automatic detection and annotation of human gene variants. Human Mutation, 35: 202-207; doi: 10.1002/humu.22474.

Qin Y, Vujovic S, Ding L, Li G, Li J, Dalgleish R, Simpson JL, Ivanisevic M, Ivovic M, Tancic M, Al-Azzawi F, Chen Z-J (2014) Ethnic specificity of variants of the ESR1HK3BRSK1 genes and the 8q22.3 locus: No association with premature ovarian failure (POF) in Serbian women. Maturitas, 77: 64-67; doi: 10.1016/j.maturitas.2013.09.006.

Li J, Vujovic S, Dalgleish R, Thomson J, Dragojevic-Dikic S, Al-Azzawi F (2013) Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women. Climacteric, Epub ahead of print, doi:10.3109/13697137.2013.819330.

Mabile L, Dalgleish R, Thorisson GA, Deschênes M, Hewitt R, Carpenter J, Bravo E, Filocamo M, Gourraud PA, Harris JR, Hofman P, Kauffmann F, Muñoz-Fernàndez MA, Pasterk M, Cambon-Thomsen A (2013) Quantifying the use of bioresources for promoting their sharing in scientific research. Gigascience, 2: 7

van Dijk FS, Dalgleish R, Malfait F, Maugeri A, Rusinska A, Semler O, Symoens S, Pals G (2013) Clinical utility gene card for: osteogenesis imperfecta. European Journal of Human Genetics, 21: Epub doi: 10.1038/ejhg.2012.210

Byrne M, Fokkema IFAC, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PEM, Thorisson GA, Vihinen M, Brookes AJ, Muilu J (2012) VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics, 13: 254

Dalgleish R, Molero E, Kidd R, Jansen M, Past D, Robl A, Mons B, Diaz C, Mons A, Brookes AJ (2012) Solving bottlenecks in data sharing in the life sciences. Human Mutation, 33: 1494-1496; doi: 10.1002/humu.22123.

Dalgleish R, Shanks ME, Monger K, Butler NJ (2012) A mini-library of sequenced human DNA fragments: linking bench experiments with informatics. Journal of Biological Education, 46: 193-198

Vihinen M, den Dunnen JT, Dalgleish R, Cotton RGH (2012) Guidelines for establishing locus specific databases. Human Mutation, 33: 298-305

Celli J, Dalgleish R, Vihinen M, Taschner PEM, den Dunnen JT (2012) Curating gene variant databases (LSDBs): towards a universal standard. Human Mutation, 33: 291-297

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G (2012) EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. European Journal of Human Genetics, 20: 11-19

Dalgleish R, Oetting WS, Auerbach AD, Beckmann JS, Cambon-Thomsen A, Devereau A, Greenblatt MS, Patrinos GP, Taylor GR, Vihinen M, Brookes AJ (2011) Clarity and claims in variation/mutation databasing. Nature Biotechnology, 29: 790-792

Dalgleish R (2011) Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation. Genetics and Molecular Research 10: 1518-1521

Lopes P, Dalgleish R, Oliveira JL (2011) WAVe: web analysis of the variome. Human Mutation 32: 729-734

Dalgleish R (2011) Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene. Knee Surgery, Sports Traumatology, Arthroscopy 19: 1403

Cambon-Thomsen A, Thorisson GA, Mabile L, Andrieu S, Bertier G, Boeckhout M, Carpenter J, Dagher G, Dalgleish R, Deschênes M, di Donato JH, Filocamo M, Goldberg M, Hewitt R, Hofman P, Kauffmann F, Leitsalu L, Lomba I, Melegh B, Metspalu A, Miranda L, Napolitani F, Oestergaard MZ, Parodi B, Pasterk M, Reiche A, Rial-Sebbag E, Rivalle G, Rochaix P, Susbielle G, Tarasova L, Thomsen M, Zawati MH, Zins M (2011) The role of a Bioresource Research Impact Factor as an incentive to share human bioresources. Nature Genetics 43: 503-504

Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido M-J, Winship I, Cotton RGH (2010) Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Human Mutation 31: 1179-1184

Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehväslaiho H, Taschner PEM, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR (2010) Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2: 24



  • I teach in the areas of human genetics and bioinformatics.

Other responsibilities

  • Member of Departmental Teaching Team
  • Departmental Radiation Protection Officer
  • Member of Departmental Safety Team


My research interests are predominantly in the the area of bioinformatics. Recent laboratory-based studies have focused onCollagen determining the genetic basis of premature ovarian insufficiency (POI) in a project involving colleagues at the Leicester Royal Infirmary and international collaborations with groups in Serbia and China.

The bioinformatics research is my major focus, and I was a partner in the European Commission 7th Framework-funded GEN2PHEN project which created database components, tools and technologies to help integrateLRG logo information pertaining to genome variation and human disease phenotype. My major contribution to this project has been the development of a new DNA reference sequence format, known as Locus Reference Genomic (LRG), which will aid in the curation of variant data in locus-specific databases (LSDBs). The LRG project is a joint venture with the European Bioinformatics Institute (EBI) and the National Centre for Biotechnology Information (NCBI) and full details can be found at the LRG website.

I was a co-developer in the Café Variome project which began life as part of the GEN2PHEN projectCafe Variome logo. Café Variome aims to provide a portal system for the discovery of gene variant data in a fashion that enables data to bequeried and re-purposed for storage and further analysis in other database systems. Hence, it exists as an intermediary between data providers and data curators. This builds on existing expertise with LSDBs and involves collaboration with software companies and diagnostic laboratories.

My principal current project is VariantValidator which is a software tool that facilitates accurate validation, mapping and formatting of sequence variant descriptions. It provides tools for the handling of variants reported in VCF and HGVS formats. A paper describing VariantValidator has been published in Human Mutation.


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University of Leicester

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