COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

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Dr Tom Laver

Dr Tom Laver

Research Fellow

 8226

 +44 (0) 1392 728226

 RILD Building Level 3

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Tom Laver is a bioinformatician specialising in analysis of DNA sequencing data. He received a BSc in Biology from the University of Bath in 2010. He then completed a bioinformatics PhD at the University of Exeter. This project involved the evaluation of factors affecting measurements of mixed microbial communities by next generation sequencing methods, including 16S amplicon and whole genome sequencing.

Tom joined the monogenic diabetes group at the University of Exeter Medical School in 2015 and in his current project is using next-generation sequencing analysis to identify novel genetic aetiologies for hyperinsulinism. 

Qualifications

  • 2015 PhD (Biosciences, Exeter)
  • 2010 BSc (Biology, Bath)

Research

Research interests

Tom Laver works on monogenic disorders of insulin secretion with several publications on hyperinsulinism and monogenic diabetes as well as on methological aspects of studying the genetics of Mendelian diseases. He is also an author of several papers discussing issues of metrology in metagenomics. He has worked on multiple projects utilising data from the third generation long read sequencing technologies from Pacific Biosciences and Oxford Nanopore and is an author of a paper judging the initial merits of the long read sequencer, the Oxford Nanopore MinION. His work is currently focused on using analysis of DNA sequencing data to discover novel genes for hyperinsulinism.

Research projects

Using next-generation sequencing analysis to identify novel genetic aetiologies for hyperinsulinism

Key publications | Publications by category | Publications by year

Key publications


Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE (In Press). Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Hum Mutat, 38(10), 1442-1444. Author URL.  Full text.
Laver TW, Wakeling M, Hua JHY, Houghton J, Hussain K, Ellard S, Flanagan S (In Press). Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical Endocrinology Full text.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (In Press). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.
Laver T, Harrison J, O'Neill PA, Moore K, Farbos A, Paszkiewicz K, Studholme DJ (2015). Assessing the performance of the Oxford Nanopore Technologies MinION. Biomolecular Detection and Quantification, 3, 1-8. Abstract.  Full text.

Publications by category


Journal articles

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (In Press). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.  Full text.
Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE (In Press). Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Hum Mutat, 38(10), 1442-1444. Author URL.  Full text.
Laver TW, Wakeling M, Hua JHY, Houghton J, Hussain K, Ellard S, Flanagan S (In Press). Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical Endocrinology Full text.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (In Press). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, et al (In Press). The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in Individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907. Abstract.  Author URL.  Full text.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (In Press). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2018). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med Abstract.  Author URL.  Full text.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract.  Author URL.  Full text.
Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract.  Author URL.
Laver T, Harrison J, O'Neill PA, Moore K, Farbos A, Paszkiewicz K, Studholme DJ (2015). Assessing the performance of the Oxford Nanopore Technologies MinION. Biomolecular Detection and Quantification, 3, 1-8. Abstract.  Full text.
O'Sullivan DM, Laver T, Temisak S, Redshaw N, Harris KA, Foy CA, Studholme DJ, Huggett JF (2014). Assessing the accuracy of quantitative molecular microbial profiling. Int J Mol Sci, 15(11), 21476-21491. Abstract.  Author URL.  Full text.
Huggett JF, Laver T, Tamisak S, Nixon G, O'Sullivan DM, Elaswarapu R, Studholme DJ, Foy CA (2013). Considerations for the development and application of control materials to improve metagenomic microbial community profiling. Accreditation and Quality Assurance, 18(2), 77-83. Abstract.
Huggett JF, Studholme DJ, Laver T, Foy CA (2013). Progress in metagenomics requires a balanced appraisal of the available technologies. European Journal of Clinical Microbiology and Infectious Diseases, 32(8), 1097-1098.
Huggett JF, Studholme DJ, Laver T, Foy CA (2013). Progress in metagenomics requires a balanced appraisal of the available technologies. Eur J Clin Microbiol Infect Dis, 32(8), 1097-1098. Author URL.

Conferences

Laver T, Wakeling M, Knox O, De-Franco E, Flanagan S, Colclough K, Ellard S, Hattersley A, Weedon M, Patel K, et al (2018). Redefining the pathogenicity of Maturity Onset Diabetes of the Young (MODY) genes: BLK, PAX4 and KLF11 do not cause MODY.  Author URL.
Patel KA, Laver T, Johnson M, Sanders T, Shepherd M, Ellard S, Flanagan S, Hattersley AT, Weedon MN (2016). RFX6 is a new MODY gene.  Author URL.

Publications by year


In Press

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (In Press). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.  Full text.
Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE (In Press). Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Hum Mutat, 38(10), 1442-1444. Author URL.  Full text.
Laver TW, Wakeling M, Hua JHY, Houghton J, Hussain K, Ellard S, Flanagan S (In Press). Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical Endocrinology Full text.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (In Press). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, et al (In Press). The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in Individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907. Abstract.  Author URL.  Full text.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (In Press). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.

2018

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2018). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med Abstract.  Author URL.  Full text.
Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract.  Author URL.  Full text.
Laver T, Wakeling M, Knox O, De-Franco E, Flanagan S, Colclough K, Ellard S, Hattersley A, Weedon M, Patel K, et al (2018). Redefining the pathogenicity of Maturity Onset Diabetes of the Young (MODY) genes: BLK, PAX4 and KLF11 do not cause MODY.  Author URL.

2016

Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract.  Author URL.
Patel KA, Laver T, Johnson M, Sanders T, Shepherd M, Ellard S, Flanagan S, Hattersley AT, Weedon MN (2016). RFX6 is a new MODY gene.  Author URL.

2015

Laver T, Harrison J, O'Neill PA, Moore K, Farbos A, Paszkiewicz K, Studholme DJ (2015). Assessing the performance of the Oxford Nanopore Technologies MinION. Biomolecular Detection and Quantification, 3, 1-8. Abstract.  Full text.

2014

O'Sullivan DM, Laver T, Temisak S, Redshaw N, Harris KA, Foy CA, Studholme DJ, Huggett JF (2014). Assessing the accuracy of quantitative molecular microbial profiling. Int J Mol Sci, 15(11), 21476-21491. Abstract.  Author URL.  Full text.

2013

Huggett JF, Laver T, Tamisak S, Nixon G, O'Sullivan DM, Elaswarapu R, Studholme DJ, Foy CA (2013). Considerations for the development and application of control materials to improve metagenomic microbial community profiling. Accreditation and Quality Assurance, 18(2), 77-83. Abstract.
Huggett JF, Studholme DJ, Laver T, Foy CA (2013). Progress in metagenomics requires a balanced appraisal of the available technologies. European Journal of Clinical Microbiology and Infectious Diseases, 32(8), 1097-1098.
Huggett JF, Studholme DJ, Laver T, Foy CA (2013). Progress in metagenomics requires a balanced appraisal of the available technologies. Eur J Clin Microbiol Infect Dis, 32(8), 1097-1098. Author URL.

Tom_Laver Details from cache as at 2018-11-17 12:12:07

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Tom Laver supervises final year research projects in BSc Medical Sciences and MSc Genomics. He also offers summer projects. He teaches on the BSc medical genetics module and MSc bioinformatics modules. He has previously taught on the BMBS Medicine course.  

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