University of Exeter Medical School

Professor Caroline Wright

Professor Caroline Wright

Professor of Genomic Medicine

 Caroline.Wright@exeter.ac.uk

 Medical School Building 

 

Medical School Building, St Luke's Campus, Magdalen Road, Exeter, EX1 2LU, UK

Overview

Caroline trained in Natural Sciences at the University of Cambridge, where she obtained an MA, MSci and PhD specialising in biological chemistry. She joined the University of Exeter as a Senior Lecturer in 2017 and was promoted to a personal chair in genomic medicine in 2020. Her main research interests are in the use of genome-wide sequencing technologies for the diagnosis of rare diseases, particularly developmental disorders. She is interested in understanding the penetrance of rare disease-causing variants, improving variant filtering and interpretation, modelling the effect of missense variants using in silico protein structural analysis, and exploring the policy and ethical issues associated with implementation of genome-wide sequencing in healthcare.

Caroline leads the Enhanced Interpretation Genomics England Clinical Interpretation Partnership (GeCIP), and was previously seconded part-time to Genomics England as scientific lead for validation and feedback in the early stages of the UK 100,000 genomes project. She previously worked at the Wellcome Sanger Institute in Cambridge, where she remains a visiting scientist and part of the management committee for the UK Deciphering Developmental Disorders Study and translational lead for DECIPHER. Prior to that, she was Head of Science at the PHG Foundation in Cambridge.

Qualifications

  • MA, MSci, PhD (Natural Sciences, University of Cambridge)
  • MA (Healthcare Ethics and Law, University of Manchester)

Links

Research group links

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Research

Research interests

My main research interests are in the clinical application of genome-wide assays for the diagnosis of disease. I do collaborative, interdisciplinary translational research in four main areas:

  1. Developing, evaluating and improving diagnostic variant filtering pipelines for rare disease, particularly for severe developmental disorders in children
  2. Understanding the effect of rare disease-causing genetic variants in population settings
  3. Analysing the effect of rare missense variation on protein structure, stability and function
  4. Assessing and advising on the ethical and policy implications of new genetic technologies, such as data sharing and incidental findings

Research networks

  • Exeter Rare Disease Genomics (https://sites.exeter.ac.uk/rarediseasegenomics/)
  • Deciphering Developmental Disorders Study (www.ddduk.org)
  • DECIPHER (www.deciphergenomics.org)
  • PARADIGM (www.paradigmgenomics.org)

Research grants

  • 2023 MRC
    Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts [MR/X021351/1]
  • 2022 Wellcome
    Primary Annotated Resources to Advance Discovery In Genomic Medicine (PARADIGM) [226083/Z/22/Z]
  • 2020 MRC
    Assessing the pathogenicity, penetrance and expressivity of monogenic disease variants using large-scale population-based cohorts [MR/T00200X/1]

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Publications

Journal articles

Gunning A, Wright C (In Press). Evaluating the use of paralogous protein domains to increase data availability for missense variant classification. Genome Medicine Abstract.
De Franco E, Owens N, Hattersley A, Flanagan S, Wakeling M, Johnson M, Wright C (In Press). Primate-specific ZNF808 is essential for pancreatic development in humans. Nature Genetics
Horton R, Wright CF, Firth HV, Turnbull C, Lachmann R, Houlston RS, Lucassen A (2024). Challenges of using whole genome sequencing in population newborn screening. BMJ, 384  Author URL.
Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF, Pickett SJ, Hattersley AT, Weedon MN, Patel KA, et al (2024). Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Hum Mol Genet, 33(5), 465-474. Abstract.  Author URL.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, et al (2024). Penetrance of Pathogenic Genetic Variants Associated with Premature Ovarian Insufficiency. Obstetrical & Gynecological Survey, 79(1), 33-34.
Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, Lachmann R, Wright CF, Wordsworth S, George A, et al (2024). Population screening requires robust evidence-genomics is no exception. Lancet, 403(10426), 583-586.  Author URL.
Cannon S, Williams M, Gunning AC, Wright CF (2023). Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC Med Genomics, 16(1).  Author URL.
Cannon S, Williams M, Gunning AC, Wright CF (2023). Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels. BMC Medical Genomics, 16(1). Abstract.  Full text.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, et al (2023). Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. New England Journal of Medicine, 388(17), 1559-1571.
Aitken S, Firth HV, Wright CF, Hurles ME, FitzPatrick DR, Semple CA (2023). IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders. HGG Adv, 4(1). Abstract.  Author URL.
Wright CF, FitzPatrick DR, Ware JS, Rehm HL, Firth HV (2023). Importance of adopting standardized MANE transcripts in clinical reporting. Genet Med, 25(2).  Author URL.
Jackson L, Weedon MN, Green HD, Mallabar-Rimmer B, Harrison JW, Wood AR, Ruth KS, Tyrrell J, Wright CF (2023). Influence of family history on penetrance of hereditary cancers in a population setting. eClinicalMedicine, 64, 102159-102159.
Shekari S, Stankovic S, Gardner EJ, Hawkes G, Kentistou KA, Beaumont RN, Mörseburg A, Wood AR, Prague JK, Mishra GD, et al (2023). Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. Nat Med, 29(7), 1692-1699. Abstract.  Author URL.
Caswell RC, Gunning AC, Owens MM, Ellard S, Wright CF (2022). Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. GENOME MEDICINE, 14(1).  Author URL.
Wright CF, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, Fitzgerald TW, FitzPatrick DR, Firth HV, Hurles ME, et al (2022). Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nat Commun, 13(1).  Author URL.
Beaumont RN, Wright CF (2022). Estimating diagnostic noise in panel-based genomic analysis. Genet Med, 24(10), 2042-2050. Abstract.  Author URL.
Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA (2022). Evaluation of Evidence for Pathogenicity Demonstrates that BLK, KLF11 and PAX4 Should not be Included in Diagnostic Testing for MODY. Diabetes Abstract.  Full text.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, et al (2022). Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea. Nat Genet, 54(10), 1534-1543. Abstract.  Author URL.
Kingdom R, Wright CF (2022). Incomplete Penetrance and Variable Expressivity: from Clinical Studies to Population Cohorts. FRONTIERS IN GENETICS, 13  Author URL.
Kingdom R, Tuke M, Wood A, Beaumont RN, Frayling TM, Weedon MN, Wright CF (2022). Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population. American journal of human genetics, 109(7), 1308-1316. Abstract.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, et al (2022). Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine, 14(1). Abstract.
Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, et al (2022). Recurrent 17q12 microduplications contribute to renal disease but not diabetes. Journal of Medical Genetics, 60(5), 491-497. Abstract.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM, et al (2022). Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. Am J Hum Genet, 109(11), 2018-2028. Abstract.  Author URL.
DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, et al (2022). The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources. Genet Med, 24(8), 1732-1742. Abstract.  Author URL.
(2021). 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine, 385(20), 1868-1880.
Beaumont RN, Mayne IK, Freathy RM, Wright CF (2021). Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders. Human Molecular Genetics, 30(11), 1057-1066. Abstract.
Gardner EJ, Sifrim A, Lindsay SJ, Prigmore E, Rajan D, Danecek P, Gallone G, Eberhardt RY, Martin HC, Wright CF, et al (2021). Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders. Am J Hum Genet, 108(11), 2186-2194. Abstract.  Author URL.
Wright CF, Eberhardt RY, Constantinou P, Hurles ME, FitzPatrick DR, Firth HV (2021). Evaluating variants classified as pathogenic in ClinVar in the DDD Study. Genetics in Medicine, 23(3), 571-575. Abstract.
Wright CF, Quaife NM, Ramos-Hernández L, Danecek P, Ferla MP, Samocha KE, Kaplanis J, Gardner EJ, Eberhardt RY, Chao KR, et al (2021). Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. Am J Hum Genet, 108(6), 1083-1094. Abstract.  Author URL.
Copeland H, Kivuva E, Firth HV, Wright CF (2021). Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders. Genet Med, 23(6), 1058-1064. Abstract.  Author URL.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, et al (2021). The contribution of X-linked coding variation to severe developmental disorders. Nature communications, 12(1). Abstract.
Weedon MN, Wright CF, Patel KA, Frayling TM (2021). Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R. Cell, 184(7).
Mn W, L J, Jw H, Ks R, J T, at H, Cf W (2021). Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. BMJ, 372 Abstract.  Author URL.
Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF (2020). Assessing performance of pathogenicity predictors using clinically relevant variant datasets. Journal of Medical Genetics, 58(8), 547-555. Abstract.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, et al (2020). Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature, 586(7831), 757-762. Abstract.
Rowe CA, Wright CF (2020). Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet, 11(1), 21-38. Abstract.  Author URL.
Tuke M, Tyrrell J, Ruth KS, Beaumont RN, Wood AR, Murray A, Frayling TM, Weedon MN, Wright CF (2020). Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates. Am J Hum Genet, 107(2), 325-329. Abstract.  Author URL.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, et al (2020). Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet, 106(2), 272-279. Abstract.  Author URL.
Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, et al (2019). Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. American Journal of Human Genetics, 104(2), 275-286. Abstract.
Wright C, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, FItzGerald T, FitzPatrick D, Firth H, Hurles M, et al (2019). Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nature Communications, 10
Horton R, Crawford G, Freeman L, Fenwick A, Wright CF, Lucassen A (2019). Direct-to-consumer genetic testing. The BMJ, 367
Kaplanis J, Akawi N, Gallone G, McRae JF, Prigmore E, Wright CF, Fitzpatrick DR, Firth HV, Barrett JC, Hurles ME, et al (2019). Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations. Genome Res, 29(7), 1047-1056. Abstract.  Author URL.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, et al (2019). Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data. Am J Hum Genet, 105(5), 933-946. Abstract.  Author URL.
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, et al (2019). Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun, 10(1). Abstract.  Author URL.
Wright CF, Ware JS, Lucassen AM, Hall A, Middleton A, Rahman N, Ellard S, Firth HV (2019). Genomic variant sharing: a position statement. Wellcome Open Research, 4, 22-22. Abstract.
Wright CF, Ware JS, Lucassen AM, Hall A, Middleton A, Rahman N, Ellard S, Firth HV (2019). Genomic variant sharing: a position statement. Wellcome Open Research, 4, 22-22. Abstract.
Wright CF, Ware JS, Lucassen AM, Hall A, Middleton A, Rahman N, Ellard S, Firth HV (2019). Genomic variant sharing: a position statement. Wellcome open research, 4 Abstract.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract.  Author URL.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, et al (2019). Pathogenicity and selective constraint on variation near splice sites. Genome Res, 29(2), 159-170. Abstract.  Author URL.
Caswell RC, Owens MM, Gunning AC, Ellard S, Wright CF (2019). Using structural analysis in silico to assess the impact of missense variants in MEN1. Journal of the Endocrine Society, 3, 2258-2275. Abstract.  Full text.
Wright CF, Parker M, Lucassen AM (2019). When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited. Genet Med, 21(1), 97-101. Abstract.  Author URL.
Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, et al (2018). Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature, 562(7726), 268-271.
Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, et al (2018). De novo mutations in regulatory elements in neurodevelopmental disorders. Nature, 555(7698), 611-616.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, et al (2018). Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. Am J Hum Genet, 102(1), 175-187. Abstract.  Author URL.
Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, et al (2018). Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med, 20(10), 1216-1223. Abstract.  Author URL.
Wright CF, FitzPatrick DR, Firth HV (2018). Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet, 19(5). Abstract.  Author URL.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, et al (2018). Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362(6419), 1161-1164. Abstract.  Author URL.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, DDD Study, Mandelstam S, Wirrell E, et al (2017). Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology, 89(10), 1035-1042. Abstract.  Author URL.
McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, Sifrim A, Aitken S, Akawi N, Alvi M, et al (2017). Prevalence and architecture of <i>de novo</i> mutations in developmental disorders. NATURE, 542(7642), 433-+.  Author URL.
Suri M, Evers JMG, Laskowski RA, O'Brien S, Baker K, Clayton-Smith J, Dabir T, Josifova D, Joss S, Kerr B, et al (2017). Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Mol Genet Genomic Med, 5(5), 495-507. Abstract.  Author URL.
Wright CF, Middleton A, Barrett JC, Firth HV, FitzPatrick DR, Hurles M, Parker M (2017). Returning genome sequences to research participants: Policy and practice. Wellcome Open Research, 2, 15-15. Abstract.
Evers JMG, Laskowski RA, Bertolli M, Clayton-Smith J, Deshpande C, Eason J, Elmslie F, Flinter F, Gardiner C, Hurst JA, et al (2017). Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Hum Mol Genet, 26(3), 519-526. Abstract.  Author URL.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2016). Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. European Journal of Human Genetics, 24(1), 21-29. Abstract.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SHA, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, et al (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060-1065. Abstract.
Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV, Wright CF, et al (2016). Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: Application to the WD40 domain. Human Molecular Genetics, 25(5), 927-935. Abstract.
Wright CF, Hurles ME, Firth HV (2016). Principle of proportionality in genomic data sharing. Nature Reviews Genetics, 17(1), 1-2.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, et al (2015). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet, 47(11), 1363-1369. Abstract.  Author URL.
Chatzimichali EA, Brent S, Hutton B, Perrett D, Wright CF, Bevan AP, Hurles ME, Firth HV, Swaminathan GJ (2015). Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER. Human Mutation, 36(10), 941-949. Abstract.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, Van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, et al (2015). Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, 385(9975), 1305-1314. Abstract.
Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. NATURE, 519(7542), 223-+.  Author URL.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. Abstract.
Mircsof D, Langouët M, Rio M, Moutton S, Siquier-Pernet K, Bole-Feysot C, Cagnard N, Nitschke P, Gaspar L, Žnidarič M, et al (2015). Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. Nat Neurosci, 18(12), 1731-1736. Abstract.  Author URL.
Middleton A, Morley KI, Bragin E, Firth HV, Hurles ME, Wright CF, Parker M (2015). No expectation to share incidental findings in genomic research. The Lancet, 385(9975), 1289-1290.
Middleton A, Wright CF, Morley KI, Bragin E, Firth HV, Hurles ME, Parker M (2015). Potential research participants support the return of raw sequence data. Journal of Medical Genetics, 52(8), 571-574. Abstract.
Wright CF, Zimmern RL (2014). Conceptual issues for screening in the genomic era - time for an update?. Epidemiology Biostatistics and Public Health, 11(4), 1-8. Abstract.
Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, Bevan AP, Swaminathan GJ (2014). DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Research, 42(D1). Abstract.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, et al (2014). The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Research, 42(D1). Abstract.
Middleton A, Parker M, Wright CF, Bragin E, Hurles ME (2013). Empirical research on the ethics of genomic research. American Journal of Medical Genetics, Part A, 161(8), 2099-2101.
Moorthie S, Hall A, Wright CF (2013). Informatics and clinical genome sequencing: Opening the black box. Genetics in Medicine, 15(3), 165-171. Abstract.
Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, Birney E, Firth HV (2013). Policy challenges of clinical genome sequencing. BMJ (Online), 347
Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV (2012). Decipher: Web-based, community resource for clinical interpretation of rare variants in developmental disorders. Human Molecular Genetics, 21(R1). Abstract.
Wright CF, Wei Y, Higgins JP, Sagoo GS (2012). Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Research Notes, 5 Abstract.
Dent THS, Wright CF, Stephan BCM, Brayne C, Janssens ACJW (2012). Risk prediction models: a framework for assessment. Public Health Genomics, 15(2), 98-105. Abstract.
Wright CF, Hall A, Zimmern RL (2011). Regulating direct-to-consumer genetic tests: What is all the fuss about?. Genetics in Medicine, 13(4), 295-300. Abstract.
Moorthie S, Mattocks CJ, Wright CF (2011). Review of massively parallel DNA sequencing technologies. HUGO Journal, 5(1-4), 1-12. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of Genetic RIsk Prediction Studies (GRIPS): Explanation and elaboration. Journal of Clinical Epidemiology, 64(8).
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Human Genetics, 19(5). Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Epidemiology, 26(4), 313-337. Abstract.
Janssens ACJW, Ioannidis JPA, Bedrosian S, Boffetta P, Dolan SM, Dowling N, Fortier I, Freedman AN, Grimshaw JM, Gulcher J, et al (2011). Strengthening the reporting of genetic risk prediction studies (GRIPS): Explanation and elaboration. European Journal of Clinical Investigation, 41(9), 1010-1035. Abstract.
(2011). Strengthening the reporting of genetic risk prediction studies: the GRIPS statement. Journal of Clinical Epidemiology, 64(8), 843-847.
Firth HV, Wright CF (2011). The Deciphering Developmental Disorders (DDD) study. Developmental Medicine and Child Neurology, 53(8), 702-703.
Wright CF, Kroese M (2010). Evaluation of genetic tests for susceptibility to common complex diseases: Why, when and how?. Human Genetics, 127(2), 125-134. Abstract.
Burke W, Burton H, Hall AE, Karmali M, Khoury MJ, Knoppers B, Meslin EM, Stanley F, Wright CF, Zimmern RL, et al (2010). Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and "personalized" medicine?. Genetics in Medicine, 12(12), 785-791. Abstract.
Hall A, Bostanci A, Wright CF (2010). Non-invasive prenatal diagnosis using cell-free fetal DNA technology: Applications and implications. Public Health Genomics, 13(4), 246-255. Abstract.
Wright CF, Brice P, Stewart A, Burton H (2010). Realising the benefits of genetics for health. The Lancet, 376(9750), 1370-1371.
Wright CF, Gregory-Jones S (2010). Size of the direct-to-consumer genomic testing market. Genetics in Medicine, 12(9). Abstract.
Burton H, Wright CF, Zimmern R (2009). A new strategic phase for genomic medicine in UK health services. Genome Medicine, 1(10), 93-93.
Wright CF, Hall A, Matthews FE, Brayne C (2009). Biomarkers, Dementia, and Public Health. Annals of the New York Academy of Sciences, 1180(1), 11-19. Abstract.
Wright CF, Chitty LS (2009). Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ, 339(jul06 2), b2451-b2451.
Wright CF, Burton H (2008). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update, 15(1), 139-151.
Wright CF, Teichmann SA, Clarke J, Dobson CM (2005). The importance of sequence diversity in the aggregation and evolution of proteins. Nature, 438(7069), 878-881.
Wright CF, Christodoulou J, Dobson CM, Clarke J (2004). The importance of loop length in the folding of an immunoglobulin domain. PROTEIN ENGINEERING DESIGN & SELECTION, 17(5), 443-453.  Author URL.
Wright CF, Christodoulou J, Dobson CM, Clarke J (2004). The importance of loop length in the folding of an immunoglobulin domain. Protein Engineering Design and Selection, 17(5), 443-453.
Wright CF, Steward A, Clarke J (2004). Thermodynamic Characterisation of Two Transition States Along Parallel Protein Folding Pathways. Journal of Molecular Biology, 338(3), 445-451.
Wright CF, Lindorff-Larsen K, Randles LG, Clarke J (2003). Parallel protein-unfolding pathways revealed and mapped. Nature Structural & Molecular Biology, 10(8), 658-662.

Chapters

Wright CF, Middleton A, Parker M (2014). Ethical, legal and social issues in clinical genomics. In  (Ed) Genomic Medicine Principles and Practice, Oxford University Press (UK). Abstract.
Wright C, MacArthur DG (2012). Direct-to-Consumer Genetic Testing. In  (Ed) Molecular Genetics and Personalized Medicine, Springer Science & Business Media. Abstract.
Wright CF, Zimmern RL (2010). Quality issues in the evaluation and regulation of genetic testing services: a public health approach. In  (Ed) Quality Issues in Clinical Genetic Services, 267-275. Abstract.

Conferences

Cannon S, Hall T, Hawkes G, Colclough K, Boggan R, Wright CF, Pickett S, Hattersley AT, Weedon MN, Patel KA, et al (2023). Large scale blood mitochondrial genome wide associations study provides novel insights into diabetes and mitochondrial disease related traits.  Author URL.
Whiffin N, Danecek P, Quaife NM, Kaplanis J, Samocha K, Juusola J, Retterer K, Barton PJR, Firth HV, Hurles ME, et al (2020). <i>De novo</i> noncoding variants upstream of <i>MEF2C</i> cause severe developmental disorders.  Author URL.
Middleton A, Parker M, Bragin E, Wright CF, Morley K, Bevan AP, Firth H, Hurles M (2012). Sharing genomic research data: launch of an international ethics study.  Author URL.
Dent THS, Wright CF (2009). RISK PREDICTION IN CORONARY HEART DISEASE AND OTHER CONDITIONS: CURRENT UNCERTAINTIES AND FUTURE OPPORTUNITIES.  Author URL.

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Teaching

MSc Genomic Medicine

  • Genomics of rare disease
  • Variant interpretation
  • Bioethics and public health genomics

Modules

2023/24

Information not currently available


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