A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture.

Autor: Attenborough T; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; School of Infection and Immunity, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, United Kingdom., Rawlinson KA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; Josephine Bay Paul Center, Marine Biological Laboratory, Woods Hole, United States., Diaz Soria CL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Ambridge K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Sankaranarayanan G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Graham J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Cotton JA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; School of Biodiversity, One Health and Veterinary Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, United Kingdom., Doyle SR; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Rinaldi G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; Department of Life Sciences, Aberystwyth University, Aberystwyth, United Kingdom., Berriman M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; School of Infection and Immunity, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, United Kingdom.

Publikováno v: ELife [Elife] 2024 Aug 27; Vol. 13. Date of Electronic Publication: 2024 Aug 27.

Precise identification of cancer cells from allelic imbalances in single cell transcriptomes.

Autor: Trinh MK; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Pacyna CN; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Kildisiute G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Thevanesan C; University College London Great Ormond Street Institute of Child Health, London, UK., Piapi A; University College London Great Ormond Street Institute of Child Health, London, UK., Ambridge K; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Anderson ND; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Khabirova E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Prigmore E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Straathof K; University College London Great Ormond Street Institute of Child Health, London, UK., Behjati S; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. sb31@sanger.ac.uk.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. sb31@sanger.ac.uk.; Department of Paediatrics, University of Cambridge, Cambridge, UK. sb31@sanger.ac.uk., Young MD; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK. my4@sanger.ac.uk.

Publikováno v: Communications biology [Commun Biol] 2022 Sep 07; Vol. 5 (1), pp. 884. Date of Electronic Publication: 2022 Sep 07.

Immune disease risk variants regulate gene expression dynamics during CD4 ⁺ T cell activation.

Autor: Soskic B; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.; Open Targets, Wellcome Genome Campus, Cambridge, UK., Cano-Gamez E; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.; Open Targets, Wellcome Genome Campus, Cambridge, UK., Smyth DJ; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Ambridge K; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Ke Z; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Matte JC; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Bossini-Castillo L; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Kaplanis J; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.; Open Targets, Wellcome Genome Campus, Cambridge, UK., Ramirez-Navarro L; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Lorenc A; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK., Nakic N; GSK, R&D, Stevenage, UK., Esparza-Gordillo J; GSK, R&D, Stevenage, UK., Rowan W; GSK, R&D, Stevenage, UK., Wille D; GSK, R&D, Stevenage, UK., Tough DF; GSK, R&D, Stevenage, UK., Bronson PG; R&D Translational Biology, Biogen, Cambridge, MA, USA., Trynka G; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK. gosia@sanger.ac.uk.; Open Targets, Wellcome Genome Campus, Cambridge, UK. gosia@sanger.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2022 Jun; Vol. 54 (6), pp. 817-826. Date of Electronic Publication: 2022 May 26.

Blood and immune development in human fetal bone marrow and Down syndrome.

Autor: Jardine L; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Haematology Department, Freeman Hospital, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Webb S; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Goh I; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Quiroga Londoño M; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Reynolds G; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Mather M; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Olabi B; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Stephenson E; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Botting RA; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Horsfall D; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Engelbert J; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Maunder D; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Mende N; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Murnane C; Department of Paediatrics, University of Oxford, Oxford, UK., Dann E; Wellcome Sanger Institute, Hinxton, UK., McGrath J; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., King H; Centre for Immunobiology, Blizard Institute, Queen Mary University of London, London, UK., Kucinski I; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Queen R; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Carey CD; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Shrubsole C; Haematology Department, Freeman Hospital, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Poyner E; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Acres M; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Jones C; NovoPath, Department of Pathology, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Ness T; NovoPath, Department of Pathology, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Coulthard R; NovoPath, Department of Pathology, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Elliott N; Department of Paediatrics, University of Oxford, Oxford, UK., O'Byrne S; Department of Paediatrics, University of Oxford, Oxford, UK., Haltalli MLR; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Lawrence JE; Wellcome Sanger Institute, Hinxton, UK., Lisgo S; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Balogh P; Wellcome Sanger Institute, Hinxton, UK., Meyer KB; Wellcome Sanger Institute, Hinxton, UK., Prigmore E; Wellcome Sanger Institute, Hinxton, UK., Ambridge K; Wellcome Sanger Institute, Hinxton, UK., Jain MS; Wellcome Sanger Institute, Hinxton, UK., Efremova M; Barts Cancer Institute, Queen Mary University of London, London, UK., Pickard K; Haematology Department, Freeman Hospital, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Creasey T; Haematology Department, Freeman Hospital, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wolfson Childhood Cancer Centre, Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK., Bacardit J; School of Computing, Newcastle University, Newcastle upon Tyne, UK., Henderson D; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Coxhead J; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Filby A; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Hussain R; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Dixon D; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., McDonald D; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Popescu DM; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Kowalczyk MS; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Li B; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Ashenberg O; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Genentech, South San Francisco, CA, USA., Tabaka M; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Dionne D; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Tickle TL; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Data Sciences Platform, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Slyper M; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Rozenblatt-Rosen O; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Regev A; Klarman Cell Observatory, Broad Institute of Harvard and MIT, Cambridge, MA, USA., Behjati S; Wellcome Sanger Institute, Hinxton, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK., Laurenti E; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Wilson NK; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Roy A; Department of Paediatrics, University of Oxford, Oxford, UK.; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics, Children's Hospital, John Radcliffe Hospital, and MRC WIMM, University of Oxford, Oxford, UK.; BRC Blood Theme, National Institute for Health Research (NIHR) Oxford Biomedical Research Centre, Oxford, UK., Göttgens B; Department of Haematology, Wellcome-MRC Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK., Roberts I; Department of Paediatrics, University of Oxford, Oxford, UK.; MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics, Children's Hospital, John Radcliffe Hospital, and MRC WIMM, University of Oxford, Oxford, UK.; BRC Blood Theme, National Institute for Health Research (NIHR) Oxford Biomedical Research Centre, Oxford, UK., Teichmann SA; Wellcome Sanger Institute, Hinxton, UK.; Theory of Condensed Matter Group, Cavendish Laboratory, University of Cambridge, Cambridge, UK., Haniffa M; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK. m.a.haniffa@ncl.ac.uk.; Wellcome Sanger Institute, Hinxton, UK. m.a.haniffa@ncl.ac.uk.; Department of Dermatology and NIHR Newcastle Biomedical Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. m.a.haniffa@ncl.ac.uk.

Publikováno v: Nature [Nature] 2021 Oct; Vol. 598 (7880), pp. 327-331. Date of Electronic Publication: 2021 Sep 29.

Large-scale discovery of novel genetic causes of developmental disorders

Autor: Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L.G., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O'Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweier, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Shanrif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., The Deciphering Developmental Disorders Study, .

Publikováno v: Nature

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders1, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Par

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