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Ewan Birney

wellcome genome campus

142H-index
500Paper Count
18.1WCitation Count
Published Papers 190
Publication Date
Multi-omic analysis of deep learning-derived phenotypes links ophthalmic imaging to cardiovascular and neurological traits
err2026-06-16
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errOAAI
errThomas H. Julian; Haoran Dou; Jinming Duan; Jinghan Huang; Esther Yoo; David J. Green; Andrew Strange; Elham Alhathli; Matthew Sperrin; Pearse A. Keane; Emily Y. Chew; Bernard Keavney; Tomas W. Fitzgerald; Johnathan Cooper-Knock; Ewan Birney; Alejandro F. Frangi; Panagiotis I. Sergouniotis
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Insights and emerging perspectives from the 2025 Medaka PI/ERC IndiGene meeting: Heidelberg July 22-24, 2025
err2026-01-01
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PREAI
errAcemel, Rafael D.; Bobe, Julien; Centanin, Lazaro; Centola, Cielo; Chhabra, Sapna; Loosli, Felix; Bhandari, Ramji Kumar; Vazquez-marin, Javier; Zilova, Lucie; Birney, Ewan; Wittbrodt, Jochen; Martinez-morales, Juan R.
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Author Correction: Learning the natural history of human disease with generative transformers
errNature
IF48.5
err2025-11-12
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errOAAI
errArtem Shmatko; Alexander Wolfgang Jung; Kumar Gaurav; Søren Brunak; Laust Hvas Mortensen; Ewan Birney; Tom Fitzgerald; Moritz Gerstung
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Learning the natural history of human disease with generative transformers
errNature
IF48.5
err2025-09-17
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errOAAI
errArtem Shmatko; Alexander Wolfgang Jung; Kumar Gaurav; Søren Brunak; Laust Hvas Mortensen; Ewan Birney; Tom Fitzgerald; Moritz Gerstung
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Structural variation in 1,019 diverse humans based on long-read sequencing
errNature
IF48.5
err2025-07-23
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errOAAI
errSiegfried Schloissnig; Samarendra Pani; Jana Ebler; Carsten Hain; Vasiliki Tsapalou; Arda Söylev; Patrick Hüther; Hufsah Ashraf; Timofey Prodanov; Mila Asparuhova; Hugo Magalhães; Wolfram Höps; Jesus Emiliano Sotelo-Fonseca; Tomas Fitzgerald; Walter Santana-Garcia; Ricardo Moreira-Pinhal; Sarah Hunt; Francy J. Pérez-Llanos; Tassilo Erik Wollenweber; Sugirthan Sivalingam; Dagmar Wieczorek; Mario Cáceres; Christian Gilissen; Ewan Birney; Zhihao Ding; Jan Nygaard Jensen; Nikhil Podduturi; Jan Stutzki; Bernardo Rodriguez-Martin; Tobias Rausch; Tobias Marschall; Jan O. Korbel
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Nanoscale 3D DNA tracing in non-denatured cells resolves the Cohesin-dependent loop architecture of the genome in situ
err2025-07-19
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errOAAI
errK. S. Beckwith; Ø. Ødegård-Fougner; N. R. Morero; C. Barton; F. Schueder; W. Tang; S. Alexander; J- M. Peters; R. Jungmann; E. Birney; J. Ellenberg
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Natural genetic variation quantitatively regulates heart rate and dimension
err2025-04-30
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errOAAI
errGierten, Jakob; Welz, Bettina; Fitzgerald, Tomas; Thumberger, Thomas; Agarwal, Rashi; Hummel, Oliver; Leger, Adrien; Weber, Philipp; Naruse, Kiyoshi; Hassel, David; Huebner, Norbert; Birney, Ewan; Wittbrodt, Joachim
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Genome-wide association testing beyond SNPs
err2024-10-07
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PREAI
errHarris, Laura; McDonagh, Ellen M.; Zhang, Xiaolei; Fawcett, Katherine; Foreman, Amy; Daneck, Petr; Sergouniotis, Panagiotis I.; Parkinson, Helen; Mazzarotto, Francesco; Inouye, Michael; Hollox, Edward J.; Birney, Ewan; Fitzgerald, Tomas
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The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism
err2024-09-30
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errOAAI
errGreen, David J.; Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Black, Graeme C.; Arveiler, Benoit; Sergouniotis, Panagiotis I.
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Modular control of vertebrate axis segmentation in time and space
err2024-08-09
err1
errOAAI
errSeleit, Ali; Brettell, Ian; Fitzgerald, Tomas; Vibe, Carina; Loosli, Felix; Wittbrodt, Joachim; Naruse, Kiyoshi; Birney, Ewan; Aulehla, Alexander
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Longitudinal metabolite and protein trajectories prior to diabetes mellitus diagnosis in Danish blood donors: a nested case-control study
err2024-07-30
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errOAAI
errLundgaard, Agnete T.; Westergaard, David; Roder, Timo; Burgdorf, Kristoffer S.; Larsen, Margit H.; Schwinn, Michael; Thorner, Lise W.; Sorensen, Erik; Nielsen, Kaspar R.; Hjalgrim, Henrik; Erikstrup, Christian; Kjerulff, Bertram D.; Hindhede, Lotte; Hansen, Thomas F.; Nyegaard, Mette; Birney, Ewan; Stefansson, Hreinn; Stefansson, Kari; Pedersen, Ole B. V.; Ostrowski, Sisse R.; Rossing, Peter; Ullum, Henrik; Mortensen, Laust H.; Vistisen, Dorte; Banasik, Karina; Brunak, Soren
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Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
err2024-06-07
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errOAAI
errAndhika, Nadya S.; Biswas, Susmito; Hardcastle, Claire; Green, David J.; Ramsden, Simon C.; Birney, Ewan; Black, Graeme C.; Sergouniotis, Panagiotis I.
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Benchmarking of computational methods for m6A profiling with Nanopore direct RNA sequencing
err2024-01-26
err5
errOAAI
errMaestri, Simone; Furlan, Mattia; Mulroney, Logan; Coscujuela Tarrero, Lucia; Ugolini, Camilla; Dalla Pozza, Fabio; Leonardi, Tommaso; Birney, Ewan; Nicassio, Francesco; Pelizzola, Mattia
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AlphaFold Protein Structure Database in 2024: providing structure coverage for over 214 million protein sequences
err2023-11-02
err193
errOAAI
errVaradi, Mihaly; Bertoni, Damian; Magana, Paulyna; Paramval, Urmila; Pidruchna, Ivanna; Radhakrishnan, Malarvizhi; Tsenkov, Maxim; Nair, Sreenath; Mirdita, Milot; Yeo, Jingi; Kovalevskiy, Oleg; Tunyasuvunakool, Kathryn; Laydon, Agata; Zidek, Augustin; Tomlinson, Hamish; Hariharan, Dhavanthi; Abrahamson, Josh; Green, Tim; Jumper, John; Birney, Ewan; Steinegger, Martin; Hassabis, Demis; Velankar, Sameer
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A multilayered approach to the analysis of genetic data from individuals with suspected albinism
err2023-07-17
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errOAAI
errSergouniotis, Panagiotis I.; Michaud, Vincent; Lasseaux, Eulalie; Campbell, Christopher; Plaisant, Claudio; Javerzat, Sophie; Birney, Ewan; Ramsden, Simon C.; Black, Graeme C.; Arveiler, Benoit
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GREENER principles for environmentally sustainable computational science
err2023-06-26
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errOAAI
errLannelongue, Loic; Aronson, Hans-Erik G.; Bateman, Alex; Birney, Ewan; Caplan, Talia; Juckes, Martin; McEntyre, Johanna; Morris, Andrew D.; Reilly, Gerry; Inouye, Michael
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Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures
err2023-04-01
err11
errOAAI
errRausch, Tobias; Snajder, Rene; Leger, Adrien; Simovic, Milena; Giurgiu, Madalina; Villacorta, Laura; Henssen, Anton G.; Froehling, Stefan; Stegle, Oliver; Birney, Ewan; Bonder, Marc Jan; Ernst, Aurelie; Korbel, Jan O.
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Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation
err2023-02-27
err9
errOAAI
errCurrant, Hannah; Fitzgerald, Tomas W.; Patel, Praveen J.; Khawaja, Anthony P.; Webster, Andrew R.; Mahroo, Omar A.; Birney, Ewan
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Dynamic, adaptive sampling during nanopore sequencing using Bayesian experimental design
err2023-01-02
err26
errOAAI
errWeilguny, Lukas; De Maio, Nicola; Munro, Rory; Manser, Charlotte; Birney, Ewan; Loose, Matthew; Goldman, Nick
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