Genetics Core, Edinburgh Clinical Research Facility

Research output

Research output per year 2020 2021 2022 2023 2023

• 25 Article
• 1 Comment/debate

Research output per year

Research output per year

Search results

• 2023

  Integration of datasets for individual prediction of DNA methylation-based biomarkers

  Merzbacher, C., Ryan, B., Goldsborough, T., Hillary, R. F., Campbell, A., Murphy, L., McIntosh, A. M., Liewald, D., Harris, S. E., Mcrae, A. F., Cox, S. R., Cannings, T. I., Vallejos, C. A., McCartney, D. L. & Marioni, R. E., 5 Dec 2023, In: Genome Biology. 24, 1, p. 278

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Epigenetics 100%
  • DNA Methylation 100%
  • Age 100%
  • Birth 66%
  • Biological Variation 66%

• Cellular heterogeneity of the developing worker honey bee (Apis mellifera) pupa: a single cell transcriptomics analysis: Honeybee cell heterogeneity during development

  Patir, A., Raper, A., Fleming, R., Henderson, B., Murphy, L., Henderson, N. C., Clark, E., Freeman, T. & Barnett, M., 30 Sept 2023, In: G3: Genes | Genomes | Genetics. 13, 10, p. 1-13 13 p., jkad178.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Honeybee 100%
  • Transcriptomics 100%
  • Cells 100%
  • Cell Heterogeneity 100%
  • Development 100%

• A second update on mapping the human genetic architecture of COVID-19

  The COVID-19 Host Genetics Initiative, 6 Sept 2023, In: Nature. 621, 7977, p. E7-E26

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

  GenOMICC Investigators, Law, A., Hendry, S. C. & Baillie, J. K., 27 Jul 2023, In: Nature. 619, 7971, p. E61

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  File

  • Meta-Analysis 100%
  • COVID-19 100%
  • Genetic Variability 100%
  • Genome Wide Association Study 100%
  • Meta Analysis 100%

• Blood-based epigenome-wide analyses of nineteen common disease states: A longitudinal, population-based linked cohort study of 18,413 Scottish individuals

  Hillary, R., McCartney, D. L., Smith, H., Bernabeu, E., Gadd, D., Chybowska, A., Cheng, Y., Murphy, L., Wrobel, N., Walker, R., Hayward, C., Evans, K. L., McIntosh, A. M. & Marioni, R. E., 6 Jul 2023, In: PLoS Medicine. 20, 7, e1004247.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages

  Gillan, J. L., Chokshi, M., Hardisty, G. R., Clohisey Hendry, S., Prasca-Chamorro, D., Robinson, N. J., Lasota, B., Clark, R., Murphy, L., Whyte, M. K. B., Baillie, J. K., Davidson, D. J., Bao, G. & Gray, R. D., 26 May 2023, In: Science Advances. 9, 21, p. 1-17 17 p., eadg5128.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Cystic Fibrosis 100%
  • Macrophage 100%
  • RNA Sequencing 16%
  • Inpatient 16%
  • Silo-Filler's Disease 16%

• GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19

  GenOMICC Investigators, SCOURGE Consortium, ISARIC4C Investigators, 23andMe Covid-19 Team, Pairo-Castineira, E., Rawlik, K., Bretherick, A. D., Qi, T., Wu, Y., Nassiri, I., McConkey, G. A., Zechner, M., Klaric, L., Griffiths, F., Oosthuyzen, W., Kousathanas, A., Richmond, A., Millar, J., Russell, C. D., Malinauskas, T., & 39 othersThwaites, R., Morrice, K., Keating, S., Maslove, D. M., Nichol, A. D., Semple, M. G., Knight, J., Shankar-Hari, M., Summers, C., Hinds, C., Horby, P., Ling, L., McAuley, D. F., Montgomery, H., Openshaw, P. J. M., Begg, C., Walsh, T. S., Tenesa, A., Flores, C., Riancho, J. A., Rojas-Martinez, A., Lapunzina, P., Yang, J., Ponting, C. P., Wilson, J. F., Vitart, V., Abedalthagafi, M. S., Luchessi, A., Parra, E. J., Cruz, R., Carracedo, A., Fawkes, A., Murphy, L., Rowan, K., Pereira, A. C., Law, A., Fairfax, B. P., Clohisey Hendry, S. & Baillie, J. K., May 2023, In: Nature. 617, 7962, p. 764-768 30 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • PDE4A 100%

• Development and validation of DNA Methylation scores in two European cohorts augment 10-year risk prediction of type 2 diabetes

  Cheng, Y., Gadd, D., Gieger, C., Monterrubio-Gomez, K., Zhang, Y., Berta, I., Stam, M., Szlachetka, N., Lobzaev, E., Wrobel, N., Murphy, L., Campbell, A., Nangle, C., Walker, R., Fawns-Ritchie, C., Peters, A., Rathmann, W., Porteous, D. J., Evans, K. L., McIntosh, A. M., & 6 othersCannings, T. I., Waldenberger, M., Ganna, A., McCartney, D. L., Vallejos, C. A. & Marioni, R. E., 6 Apr 2023, In: Nature Aging.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Immuno-epigenetic signature derived in saliva associates with the encephalopathy of prematurity and perinatal inflammatory disorders

  Conole, E. L. S., Vaher, K., Cabez, M. B., Sullivan, G., Stevenson, A. J., Hall, J., Murphy, L., Thrippleton, M. J., Quigley, A. J., Bastin, M. E., Miron, V. E., Whalley, H. C., Marioni, R. E., Boardman, J. P. & Cox, S. R., 21 Mar 2023, In: Brain, Behavior, and Immunity. 110, p. 322-338 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Epigenomics 100%
  • Brain Disease 100%
  • Association 100%
  • Immunoglobulin 100%
  • Saliva 100%

• Refining epigenetic prediction of chronological and biological age

  Bernabeu, E., McCartney, D. L., Gadd, D., Hillary, R., Lu, A. T., Murphy, L., Wrobel, N., Campbell, A., Harris, S. E., Liewald, D. C., Hayward, C., Sudlow, C. L. M., Cox, S. R., Evans, K. L., Horvath, S., McIntosh, A. M., Robinson, M. R., Vallejos, C. A. & Marioni, R. E., 28 Feb 2023, In: Genome Medicine. 15, 1, 12.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Epigenetics 100%
  • Age 100%
  • Predictor 37%
  • Association 31%
  • All Cause Mortality 18%
• 2022

  Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

  Cunningham-Burley, S., McCartney, D. L., Campbell, A., Flaig, R., Orange, C., Porteous, C., Aitken, M., Mulholland, C. C., Davidson, S., McCafferty, S., Murphy, L., Wrobel, N., McCafferty, S., Wallace, K., St Clair, D., Kerr, S., Hayward, C., McIntosh, A. M., Sudlow, C. L. M., Marioni, R. E., & 3 othersPell, J., Miedzybrodzka, Z. & Porteous, D. J., 6 Oct 2022, In: Communications Medicine. 2, 8 p., 126.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Blood 100%
  • Neonatal Infant 100%
  • Predictive Medicine 25%
  • Health 25%
  • Volunteer 12%

• Whole genome sequencing reveals host factors underlying critical Covid-19

  GenOMICC Investigators, Kousathanas, A., Pairo-Castineira, E., Rawlik, K., Stuckey, A., Odhams, C. A., Walker, S., Russell, C. D., Malinauskas, T., Wu, Y., Millar, J., Shen, X., Elliott, K. S., Griffiths, F., Oosthuyzen, W., Morrice, K., Keating, S., Wang, B., Rhodes, D., Klaric, L., & 57 othersZechner, M., Parkinson, N., Siddiq, A., Goddard, P., Donovan, S., Maslove, D., Nichol, A., Semple, M. G., Zainy, T., Maleady-Crowe, F., Todd, L., Salehi, S., Knight, J., Elgar, G., Chan, G., Arumugam, P., Patch, C., Rendon, A., Bentley, D., Kingsley, C., Kosmicki, J. A., Horowitz, J. E., Baras, A., Abecasis, G. R., Ferreira, M. A. R., Justice, A., Mirshahi, T., Oetjens, M., Rader, D. J., Ritchie, M. D., Verma, A., Fowler, T. A., Shankar-Hari, M., Summers, C., Hinds, C., Horby, P., Ling, L., McAuley, D., Montgomery, H., Openshaw, P. J. M., Elliott, P., Walsh, T., Tenesa, A., Fawkes, A., Murphy, L., Rowan, K., Ponting, C. P., Vitart, V., Wilson, J. F., Yang, J., Bretherick, A. D., Scott, R. H., Hendry, S. C., Moutsianas, L., Law, A., Caulfield, M. J. & Baillie, J. K., 7 Jul 2022, In: Nature. 607, p. 97-103

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Whole Genome Sequencing 100%
  • Host Factor 100%
  • Host 100%
  • Association 40%
  • Population Dynamics 40%

• Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effects

  Robertson, N. A., Latorre Crespo, E., Terradas Terradas, M., Lemos Portela, J., Purcell, A. C., Livesey, B., Hillary, R., Murphy, L., Fawkes, A., Macgillivray, L., Copland, M., Marioni, R. E., Marsh, J. A., Harris, S. A., Cox, S. R., Deary, I. J., Schumacher, L. J., Kirschner, K. & Chandra, T., 4 Jul 2022, In: Nature Medicine.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Fitness 100%
  • Dynamics 100%
  • Hematopoiesis 100%
  • Nested Gene 100%
  • Mutation 83%

• FutureMS cohort profile: a Scottish multicentre inception cohort study of relapsing-remitting multiple sclerosis

  Kearns, P. K. A., Martin, S. J., Chang, J., Meijboom, R., York, E. N., Chen, Y., Weaver, C., Stenson, A., Hafezi, K., Thomson, S., Freyer, E., Murphy, L., Harroud, A., Foley, P., Hunt, D., Mcleod, M., O'riordan, J., Carod-artal, F. J., Macdougall, N. J. J., Baranzini, S. E., & 3 othersWaldman, A. D., Connick, P. & Chandran, S., 29 Jun 2022, In: BMJ Open. 12, 6, p. e058506 e058506.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Follow up 100%
  • Multiple Sclerosis 100%
  • Cohort Analysis 100%
  • Cohort Study 100%
  • Relapsing Remitting Multiple Sclerosis 100%

• Procalcitonin Is Not a Reliable Biomarker of Bacterial Coinfection in People With Coronavirus Disease 2019 Undergoing Microbiological Investigation at the Time of Hospital Admission

  ISARIC4C Investigators, Relph, K. A., Russell, C. D., Fairfield, C. J., Turtle, L., De Silva, T., Siggins, M. K., Drake, T. M., Thwaites, R. S., Abrams, S., Moore, S. C., Hardwick, H. E., Oosthuyzen, W., Harrison, E. M., Docherty, A. B., Openshaw, P. J. M., Baillie, J. K., Semple, M. G. & Ho, A., 1 May 2022, In: Open forum infectious diseases. 9, 5

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Procalcitonin 100%
  • COVID-19 100%
  • Mixed Infection 100%
  • Hospital 100%
  • Biological Marker 100%

• A comparison of blood and brain-derived ageing and inflammation-related DNA methylation signatures and their association with microglial burdens

  Stevenson, A., McCartney, D., Gadd, D., Shireby, G., Hillary, R., King, D., Tzioras, M., Wrobel, N., Mccafferty, S., Murphy, L., McColl, B. W., Redmond, P., Taylor, A., Harris, S., Russ, T., McIntosh, A. M., Mill, J., Smith, C., Deary, I. J., Cox, S. R., & 2 othersMarioni, R. E. & Spires-Jones, T., 6 Apr 2022, (E-pub ahead of print) In: European Journal of Neuroscience.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• DNA methylation in relation to gestational age and brain dysmaturation in preterm infants

  Wheater, E. N., Galdi, P., McCartney, D. L., Blesa Cabez, M., Sullivan, G., Stoye, D., Lamb, G. J., Sparrow, S., Murphy, L., Wrobel, N., Quigley, A. J., Semple, S. I. K., Thrippleton, M. J., Wardlaw, J. M., Bastin, M. E., Marioni, R. E., Cox, S. R. & Boardman, J. P., 8 Mar 2022, (E-pub ahead of print) In: Brain Communications. 4, 2, fcac056.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • DNA Methylation 100%
  • Age 100%
  • Brain 100%
  • Probe 100%
  • Birth 70%
• 2021

  The impact of viral mutations on recognition by SARS-CoV-2 specific T cells

  COVID-19 Genomics UK (COG-UK) Consortium, ISARIC4C Investigators, de Silva, T. I., Liu, G., Lindsey, B. B., Dong, D., Moore, S. C., Hsu, N. S., Shah, D., Wellington, D., Mentzer, A. J., Angyal, A., Brown, R., Parker, M. D., Ying, Z., Yao, X., Turtle, L., Dunachie, S., Maini, M. K., Ogg, G., & 4 othersKnight, J. C., Peng, Y., Rowland-Jones, S. L. & Dong, T., 19 Nov 2021, In: iScience. 24, 11, 103353.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • T Cell 100%
  • Recognition 100%
  • Epitope 100%
  • Severe Acute Respiratory Syndrome Coronavirus 2 100%
  • Mutation 100%

• MRI-derived g-ratio and lesion severity in newly diagnosed multiple sclerosis

  York, E. N., Martin, S. J., Meijboom, R., Thrippleton, M. J., Bastin, M. E., Carter, E., Overell, J., Connick, P., Chandran, S., Waldman, A., Hunt, D., Akula, A., Artal, J. C., Baranzini, S., Barret, F., Bastin, M. E., Batchelor, C., Beswick, E., Brown, F., Chandran, S., & 63 othersChang, J., Chen, Y., Colville, S., Connick, P., Cranley, D., Dakin, R., Dhillon, B., Elliot, E., Finlayson, J., Foley, P., Glasmacher, S., Grossart, A., Haagenrud, H., Hafezi, K., Harrison, E., Harroud, A., Hathorn, S., Hopkins, T., Hunt, D., Hutchinson, A., Jayprakash, K., Justin, M., Kampaite, A., Kearns, P., Kennedy, G., Kleynhans, M., Kwong, J. N. K., Larraz, J., Love, K., Lyle, D., Macdonald, J., Macdougall, N., Macfarlane, L., Maclennan, B., Maclean, A., Macleod, M. A., Macleod, N., Mahad, D., Martin, S. J., Mcmahon, L., Megson, I., Meijboom, R., Mollison, D., Monaghan, M., Murphy, L., Murray, K., Newton, J., O’riordan, J., Perry, D., Quigley, S., Scotson, A., Stenson, A., Thrippleton, M. J., Hernandez, M. V., Waldman, A., Weaver, C., Webb, S., Weller, B., Williams, A., Wiseman, S., Wong, C., Wong, M. & York, E., 3 Nov 2021, In: Brain Communications.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• A prenylated dsRNA sensor protects against severe COVID-19

  ISARIC4C Investigators, 28 Sept 2021, (E-pub ahead of print) In: Science (New York, N.Y.). eabj3624.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • OAS1 100%
  • COVID-19 100%
  • SARS Coronavirus 75%
  • Severe Acute Respiratory Syndrome Coronavirus 2 75%
  • Gene Expression 25%

• Changes in in-hospital mortality in the first wave of COVID-19: a multicentre prospective observational cohort study using the WHO Clinical Characterisation Protocol UK

  ISARIC investigators, 1 May 2021, In: The Lancet Respiratory Medicine.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • COVID-19 100%
  • Patient 100%
  • Hospital Mortality 100%
  • Cohort Analysis 100%
  • Assisted Ventilation 80%

• Epigenetic predictors of lifestyle traits applied to the blood and brain

  Gadd, D., Stevenson, A., Hillary, R., McCartney, D. L., Wrobel, N., Mccafferty, S., Murphy, L., Russ, T. C., Harris, S., Redmond, P., Taylor, A., Smith, C., Rose, J., Millar, T., Spires-Jones, T., Cox, S. R. & Marioni, R. E., 19 Apr 2021, In: Brain Communications.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

• Carbonyl reductase 1 amplifies glucocorticoid action in adipose tissue and impairs glucose tolerance in lean mice.

  Bell, R., Villalobos, E., Nixon, M., Miguelez-Crespo1, A., Murphy, L., Fawkes, A., Coutts, A., Sharp, M. G., Koerner, M., Allan, E., Meijer, O. C., Houtman, R., Odermatt, A., Beck, K. R., Denham, S. G., Lee, P., Homer, N., Walker, B. R. & Morgan, R. A., 27 Mar 2021, (E-pub ahead of print) In: Molecular Metabolism.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Glucose 100%
  • Leaner Mutant Mouse 100%
  • Reductase 100%
  • Glucocorticoid 100%
  • Adipose Tissue 100%

• De novo DNA methyltransferase activity in colorectal cancer is directed towards H3K36me3 marked CpG islands

  Masalmeh, R., Taglini, F., Rubio Ramon, C., I. Musialik, K., Higham, J., Davidson-Smith, H., Kafetzopoulos, I., Pawlicka, K., M. Finan, H., Clark, R., Wills, J., J Finch, A., Murphy, L. & Sproul, D., 29 Jan 2021, In: Nature.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File
• 2020

  Genetic mechanisms of critical illness in Covid-19

  The GenOMICC Investigators, The ISARIC4C Investigators, The Covid-19 Human Genetics Initiative, 23andMe Investigators, BRACOVID Investigators, Gen-COVID Investigators, Pairo-Castineira, E., Clohisey, S., Klaric, L., Bretherick, A., Rawlik, K., Parkinson, N., Pasko, D., Walker, S., Richmond, A., Fourman, M. H., Law, A., Furniss, J., Gountouna, E., Wrobel, N., & 42 othersRussell, C. D., Moutsianas, L., Wang, B., Meynert, A. M., Yang, Z., Zhai, R., Zheng, C., Griffith, F., Oosthuyzen, W., Shih, B., Keating, S., Zechner, M., Haley, C. S., Porteous, D., Hayward, C., Knight, J., Summers, C., Shankar-Hari, M., Turtle, L., Ho, A., Hinds, C., Horby, P., Nichol, A., Maslove, D. M., Ling, L., Klenerman, P., McAuley, D. F., Montgomery, H. E., Walsh, T. S., Shen, X., Rowan, K., Fawkes, A., Murphy, L., Ponting, C. P., Tenesa, A., Caulfield, M., Scott, R., Openshaw, P., Semple, M. G., Vitart, V., Wilson, J. & Baillie, J. K., 11 Dec 2020, (E-pub ahead of print) In: Nature. n/a, n/a.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Genetics 100%
  • Genome-Wide Association Study 66%
  • Mutation 33%
  • Host 33%
  • Interferon 33%

• Postal recruitment for genetic studies of preterm birth: A feasibility study

  Keag, O. E., Murphy, L., Bradley, A., Deakin, N., Whyte, S., Norman, J. & Stock, S., 12 Feb 2020, In: Wellcome Open Research .

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Birth 100%
  • Genetics 100%
  • Premature Labor 100%
  • Sample 69%
  • Self Concept 53%