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Dr Tom Laver

Dr Tom Laver

Research Fellow

8226

RILD Building Level 3

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 is 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 (2017). 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, 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 TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). 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 (2017). 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 (2017). 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.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). 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 TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). 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.
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. Eur J Clin Microbiol Infect Dis, 32(8), 1097-1098. Author URL.

Conferences

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


2017

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (2017). 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 (2017). 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.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.

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.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.

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. Eur J Clin Microbiol Infect Dis, 32(8), 1097-1098. Author URL.

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