Professor Raymond Dalgleish

Emeritus Professor of Human Genetics

School/Department: Genetics and Genome Biology, Department of



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 then Department of Genetics continuing my work on collagen genes specifically with respect to sequence variants that result in inherited connective tissue disorders. I'm now Emeritus Professor of Human Genetics and have latterly developed a close interest in bioinformatics relating to human heritable disease.


My main current research relates to bioinformatic solutions for verifying the syntax and information content of sequence variant (mutation) descriptions. In collaboration with colleagues at University of Manchester, the sequence variant validation system VariantValidator ( has been developed. This software system is used globally and has been cited more than 50 times in journal articles and book chapters. We are now undertaking further development of VariantValidator to allow its integration into Genetic Testing systems in the NHS. 



Selected publications

Garibaldi N, Besio R, Dalgleish R, Villani S, Barnes AM, Marini JC, Forlino A (2022) Dissecting the phenotypic variability of Osteogenesis Imperfect. Disease Models & Mechanisms, in press

Bruford E, Antonescu CR, Carroll AJ, Chinnaiyan A, Cree IA, Cross NCP, Dalgleish R, Gale RP, Harrison CJ, Hastings RJ, Huret J-P, Johansson B, Le Beau M, Mecucci C, Mertens F, Mitelman F (2021) HUGO Gene Nomenclature Committee (HGNC) recommendation for the designation of gene fusions. Leukemia, 35, 3040-3043. DOI 10.1038/s41375-021-01436-6.

Leske H, Dalgleish R, Lazar AJ, Reifenberger G, Cree IA (2021) A common classification framework for histone sequence alterations in tumours: an expert consensus proposal. Journal of Pathology, 254,109-120. DOI 10.1002/path.5666.

Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein T, Korf B, Misra A, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR (2021) Verifying nomenclature of DNA variants in submitted manuscripts: guidance for journals. Human Mutation, 42, 3-7. DOI 10.1002/humu.24144.

Fratter C, Dalgleish R, Allen SK Santos R, Abbs S, Tuffery-Giraud S, Ferlini A. (2020) Best practice guidelines for genetic testing in dystrophinopathies. European Journal of Human Genetics, 28, 1141-1159. DOI 10.1038/s41431-020-0643-7.

Wang M, Callenberg KM, Dalgleish R, Fedtsov A, Freeman PJ, Jacobs KB, Kaleta P, McMurry AJ, Prlić A, Hart RK (2018) hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update. Human Mutation, 39, 1803-1813. DOI 10.1002/humu.23615.

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. 10.1002/humu.23348.

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 (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.

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.



I am now retired and will be supervising no further PhD students


Member of the Scientific Advisory Committee of the Human Genome Organization (HUGO)

Member of the Medical and Scientific Committee of the Ehlers Danlos Society

Member of the Sequence Variant Nomenclature Working Group

Member of the HUGO Gene & Disease Database Advisory Committee


Health & Sciences Communication Association (HeSCA) Gold Award and the Holly Harington-Lux Creative Design Award (July 2007)for the training video “Using a Micropipette”: ~707000 views

Health & Sciences Communication Association (HeSCA) Gold Award (July 2008) for the training video “Making and Running an Agarose Gel”: ~165000 views ~204000 views

University of Leicester Distinguished Teaching Fellowship (July 2012)

Senior Fellow of the Higher Education Academy United Kingdom (December 2012) 


PhD Biochemistry, University of London, 1980

BSc Cell Biology, University of Glasgow, 1976

British Horse Society Stage 1 Qualification in Riding & Horse Care

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