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Anja Thormann

european molecular biology laboratory (embl)

18H-index
31Paper Count
4.4WCitation Count
Published Papers 17
Publication Date
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
err2023-01-20
err4
errOAAI
errLenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M.
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Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial
err2021-12-02
err37
errOAAI
errHunt, Sarah E.; Moore, Benjamin; Amode, Ridwan M.; Armean, Irina M.; Lemos, Diana; Mushtaq, Aleena; Parton, Andrew; Schuilenburg, Helen; Szpak, Michal; Thormann, Anja; Perry, Emily; Trevanion, Stephen J.; Flicek, Paul; Yates, Andrew D.; Cunningham, Fiona
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Ensembl 2022
err2021-11-17
err1.1K
errOAAI
errCunningham, Fiona; Allen, James E.; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barnes, If; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bignell, Alexandra; Billis, Konstantinos; Boddu, Sanjay; Brooks, Lucy; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Da Rin; Davidson, Claire; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Martinez, Jose Gonzalez; Guijarro-Clarke, Cristina; Gymer, Arthur; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Marugan, Jose Carlos; Mohanan, Shamika; Mushtaq, Aleena; Naven, Marc; Ogeh, Denye N.; Parker, Anne; Parton, Andrew; Perry, Malcolm; Pilizota, Ivana; Prosovetskaia, Irina; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Perez-Silva, Jose G.; Stark, William; Steed, Emily; Sutinen, Kyosti; Sukumaran, Ranjit; Sumathipala, Dulika; Suner, Marie-Marthe; Szpak, Michal; Thormann, Anja; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Walts, Brandon; Willhoft, Natalie; Winterbottom, Andrea; Wass, Elizabeth; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Giorgetti, Stefano; Haggerty, Leanne; Hunt, Sarah E.; IIsley, Garth R.; Loveland, Jane E.; Martin, Fergal J.; Moore, Benjamin; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Dyer, Sarah; Harrison, Peter W.; Howe, Kevin L.; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul
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The Ensembl COVID-19 resource: ongoing integration of public SARS-CoV-2 data
err2021-10-11
err8
errOAAI
errDe Silva, Nishadi H.; Bhai, Jyothish; Chakiachvili, Marc; Contreras-Moreira, Bruno; Cummins, Carla; Frankish, Adam; Gall, Astrid; Genez, Thiago; Howe, Kevin L.; Hunt, Sarah E.; Martin, Fergal J.; Moore, Benjamin; Ogeh, Denye; Parker, Anne; Parton, Andrew; Ruffier, Magali; Sakthivel, Manoj Pandian; Sheppard, Dan; Tate, John; Thormann, Anja; Thybert, David; Trevanion, Stephen J.; Winterbottom, Andrea; Zerbino, Daniel R.; Finn, Robert D.; Flicek, Paul; Yates, Andrew D.
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Ensembl 2021
err2020-11-02
err1.1K
errOAAI
errHowe, Kevin L.; Achuthan, Premanand; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Rin; Davidson, Claire; Dodiya, Kamalkumar; El Houdaigui, Bilal; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Grego, Tiago; Guijarro-Clarke, Cristina; Haggerty, Leanne; Hemrom, Anmol; Hourlier, Thibaut; Izuogu, Osagie G.; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Marugan, Jose Carlos; Maurel, Thomas; McMahon, Aoife C.; Mohanan, Shamika; Moore, Benjamin; Muffato, Matthieu; Oheh, Denye N.; Paraschas, Dimitrios; Parker, Anne; Parton, Andrew; Prosovetskaia, Irina; Sakthivel, Manoj P.; Salam, Ahamed I. Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, N.; Steed, Emily; Szpak, Michal; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Walts, Brandon; Winterbottom, Andrea; Chakiachvili, Marc; Chaubal, Ameya; De Silva, Nishadi; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; IIsley, Garth R.; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Mudge, Jonathan M.; Morales, Joanella; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Cunningham, Fiona; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul
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errSave
Ensembl 2020
err2019-11-06
err1.2K
errOAAI
errYates, Andrew D.; Achuthan, Premanand; Akanni, Wasiu; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Marugan, Jose Carlos; Cummins, Carla; Davidson, Claire; Dodiya, Kamalkumar; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Grego, Tiago; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Maurel, Thomas; McDowall, Mark; McMahon, Aoife; Mohanan, Shamika; Moore, Benjamin; Nuhn, Michael; Oheh, Denye N.; Parker, Anne; Parton, Andrew; Patricio, Mateus; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Sycheva, Mira; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Vullo, Alessandro; Walts, Brandon; Winterbottom, Andrea; Zadissa, Amonida; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; Ilsley, Garth; Kostadima, Myrto; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Morales, Joannella; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Trevanion, Stephen J.; Cunningham, Fiona; Howe, Kevin L.; Zerbino, Daniel R.; Flicek, Paul
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
err2019-05-30
err73
errOAAI
errThormann, Anja; Halachev, Mihail; McLaren, William; Moore, David J.; Svinti, Victoria; Campbell, Archie; Kerr, Shona M.; Tischkowitz, Marc; Hunt, Sarah E.; Dunlop, Malcolm G.; Hurles, Matthew E.; Wright, Caroline F.; Firth, Helen V.; Cunningham, Fiona; FitzPatrick, David R.
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Ensembl 2019
err2018-11-08
err699
errOAAI
errCunningham, Fiona; Achuthan, Premanand; Akanni, Wasiu; Allen, James; Amode, M. Ridwan; Armean, Irina M.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Cummins, Carla; Davidson, Claire; Dodiya, Kamalkumar Jayantilal; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Grego, Tiago; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; Kay, Mike; Laird, Matthew R.; Lavidas, Ilias; Liu, Zhicheng; Loveland, Jane E.; Marugan, Jose C.; Maurel, Thomas; McMahon, Aoife C.; Moore, Benjamin; Morales, Joannella; Mudge, Jonathan M.; Nuhn, Michael; Ogeh, Denye; Parker, Anne; Parton, Andrew; Patricio, Mateus; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Sparrow, Helen; Stapleton, Eloise; Szuba, Marek; Taylor, Kieron; Threadgold, Glen; Thormann, Anja; Vullo, Alessandro; Walts, Brandon; Winterbottom, Andrea; Zadissa, Amonida; Chakiachvili, Marc; Frankish, Adam; Hunt, Sarah E.; Kostadima, Myrto; Langridge, Nick; Martin, Fergal J.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Staines, Daniel M.; Trevanion, Stephen J.; Aken, Bronwen L.; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul
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errSave
Ensembl variation resources
err2018-11-06
err403
errOAAI
errHunt, Sarah E.; McLaren, William; Gil, Laurent; Thormann, Anja; Schuilenburg, Helen; Sheppard, Dan; Parton, Andrew; Armean, Irina M.; Trevanion, Stephen J.; Flicek, Paul; Cunningham, Fiona
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errSave
Ensembl 2018
err2017-11-16
err2.2K
errOAAI
errZerbino, Daniel R.; Achuthan, Premanand; Akanni, Wasiu; Amode, M. Ridwan; Barrell, Daniel; Bhai, Jyothish; Billis, Konstantinos; Cummins, Carla; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Gordon, Leo; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; To, Jimmy Kiang; Laird, Matthew R.; Lavidas, Ilias; Liu, Zhicheng; Loveland, Jane E.; Maurel, Thomas; McLaren, William; Moore, Benjamin; Mudge, Jonathan; Murphy, Daniel N.; Newman, Victoria; Nuhn, Michael; Ogeh, Denye; Ong, Chuang Kee; Parker, Anne; Patricio, Mateus; Riat, Harpreet Singh; Schuilenburg, Helen; Sheppard, Dan; Sparrow, Helen; Taylor, Kieron; Thormann, Anja; Vullo, Alessandro; Walts, Brandon; Zadissa, Amonida; Frankish, Adam; Hunt, Sarah E.; Kostadima, Myrto; Langridge, Nicholas; Martin, Fergal J.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Staines, Dan M.; Trevanion, Stephen J.; Aken, Bronwen L.; Cunningham, Fiona; Yates, Andrew; Flicek, Paul
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errSave
Ensembl 2017
err2016-11-28
err457
errOAAI
errAken, Bronwen L.; Achuthan, Premanand; Akanni, Wasiu; Amode, M. Ridwan; Bernsdorff, Friederike; Bhai, Jyothish; Billis, Konstantinos; Carvalho-Silva, Denise; Cummins, Carla; Clapham, Peter; Gil, Laurent; Giron, Carlos Garcia; Gordon, Leo; Hourlier, Thibaut; Hunt, Sarah E.; Janacek, Sophie H.; Juettemann, Thomas; Keenan, Stephen; Laird, Matthew R.; Lavidas, Ilias; Maurel, Thomas; McLaren, William; Moore, Benjamin; Murphy, Daniel N.; Nag, Rishi; Newman, Victoria; Nuhn, Michael; Ong, Chuang Kee; Parker, Anne; Patricio, Mateus; Riat, Harpreet Singh; Sheppard, Daniel; Sparrow, Helen; Taylor, Kieron; Thormann, Anja; Vullo, Alessandro; Walts, Brandon; Wilder, Steven P.; Zadissa, Amonida; Kostadima, Myrto; Martin, Fergal J.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Staines, Daniel M.; Trevanion, Stephen J.; Cunningham, Fiona; Yates, Andrew; Zerbino, Daniel R.; Flicek, Paul
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The Ensembl Variant Effect Predictor
err2016-06-06
err4.8K
errOAAI
errMcLaren, William; Gil, Laurent; Hunt, Sarah E.; Riat, Harpreet Singh; Ritchie, Graham R. S.; Thormann, Anja; Flicek, Paul; Cunningham, Fiona
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errSave
Ensembl 2016
err2015-12-19
err1.2K
errOAAI
errYates, Andrew; Akanni, Wasiu; Amode, M. Ridwan; Barrell, Daniel; Billis, Konstantinos; Carvalho-Silva, Denise; Cummins, Carla; Clapham, Peter; Fitzgerald, Stephen; Gil, Laurent; Giron, Carlos Garcia; Gordon, Leo; Hourlier, Thibaut; Hunt, Sarah E.; Janacek, Sophie H.; Johnson, Nathan; Juettemann, Thomas; Keenan, Stephen; Lavidas, Ilias; Martin, Fergal J.; Maurel, Thomas; McLaren, William; Murphy, Daniel N.; Nag, Rishi; Nuhn, Michael; Parker, Anne; Patricio, Mateus; Pignatelli, Miguel; Rahtz, Matthew; Riat, Harpreet Singh; Sheppard, Daniel; Taylor, Kieron; Thormann, Anja; Vullo, Alessandro; Wilder, Steven P.; Zadissa, Amonida; Birney, Ewan; Harrow, Jennifer; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Spudich, Giulietta; Trevanion, Stephen J.; Cunningham, Fiona; Aken, Bronwen L.; Zerbino, Daniel R.; Flicek, Paul
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Ensembl 2015
err2014-10-28
err1.1K
errOAAI
errCunningham, Fiona; Amode, M. Ridwan; Barrell, Daniel; Beal, Kathryn; Billis, Konstantinos; Brent, Simon; Carvalho-Silva, Denise; Clapham, Peter; Coates, Guy; Fitzgerald, Stephen; Gil, Laurent; Giron, Carlos Garcia; Gordon, Leo; Hourlier, Thibaut; Hunt, Sarah E.; Janacek, Sophie H.; Johnson, Nathan; Juettemann, Thomas; Kaehaeri, Andreas K.; Keenan, Stephen; Martin, Fergal J.; Maurel, Thomas; McLaren, William; Murphy, Daniel N.; Nag, Rishi; Overduin, Bert; Parker, Anne; Patricio, Mateus; Perry, Emily; Pignatelli, Miguel; Riat, Harpreet Singh; Sheppard, Daniel; Taylor, Kieron; Thormann, Anja; Vullo, Alessandro; Wilder, Steven P.; Zadissa, Amonida; Aken, Bronwen L.; Birney, Ewan; Harrow, Jennifer; Kinsella, Rhoda; Muffato, Matthieu; Ruffier, Magali; Searle, Stephen M. J.; Spudich, Giulietta; Trevanion, Stephen J.; Yates, Andy; Zerbino, Daniel R.; Flicek, Paul
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Ensembl 2014
err2013-12-06
err1.2K
errOAAI
errFlicek, Paul; Amode, M. Ridwan; Barrell, Daniel; Beal, Kathryn; Billis, Konstantinos; Brent, Simon; Carvalho-Silva, Denise; Clapham, Peter; Coates, Guy; Fitzgerald, Stephen; Gil, Laurent; Giron, Carlos Garcia; Gordon, Leo; Hourlier, Thibaut; Hunt, Sarah; Johnson, Nathan; Juettemann, Thomas; Kaehaeri, Andreas K.; Keenan, Stephen; Kulesha, Eugene; Martin, Fergal J.; Maurel, Thomas; McLaren, William M.; Murphy, Daniel N.; Nag, Rishi; Overduin, Bert; Pignatelli, Miguel; Pritchard, Bethan; Pritchard, Emily; Riat, Harpreet S.; Ruffier, Magali; Sheppard, Daniel; Taylor, Kieron; Thormann, Anja; Trevanion, Stephen J.; Vullo, Alessandro; Wilder, Steven P.; Wilson, Mark; Zadissa, Amonida; Aken, Bronwen L.; Birney, Ewan; Cunningham, Fiona; Harrow, Jennifer; Herrero, Javier; Hubbard, Tim J. P.; Kinsella, Rhoda; Muffato, Matthieu; Parker, Anne; Spudich, Giulietta; Yates, Andy; Zerbino, Daniel R.; Searle, Stephen M. J.
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errSave
Ensembl 2013
err2012-11-30
err904
errOAAI
errFlicek, Paul; Ahmed, Ikhlak; Amode, M. Ridwan; Barrell, Daniel; Beal, Kathryn; Brent, Simon; Carvalho-Silva, Denise; Clapham, Peter; Coates, Guy; Fairley, Susan; Fitzgerald, Stephen; Gil, Laurent; Garcia-Giron, Carlos; Gordon, Leo; Hourlier, Thibaut; Hunt, Sarah; Juettemann, Thomas; Kaehaeri, Andreas K.; Keenan, Stephen; Komorowska, Monika; Kulesha, Eugene; Longden, Ian; Maurel, Thomas; McLaren, William M.; Muffato, Matthieu; Nag, Rishi; Overduin, Bert; Pignatelli, Miguel; Pritchard, Bethan; Pritchard, Emily; Riat, Harpreet Singh; Ritchie, Graham R. S.; Ruffier, Magali; Schuster, Michael; Sheppard, Daniel; Sobral, Daniel; Taylor, Kieron; Thormann, Anja; Trevanion, Stephen; White, Simon; Wilder, Steven P.; Aken, Bronwen L.; Birney, Ewan; Cunningham, Fiona; Dunham, Ian; Harrow, Jennifer; Herrero, Javier; Hubbard, Tim J. P.; Johnson, Nathan; Kinsella, Rhoda; Parker, Anne; Spudich, Giulietta; Yates, Andy; Zadissa, Amonida; Searle, Stephen M. J.
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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes
err2011-05-11
err105
errOAAI
errVilardell, Mireia; Rasche, Axel; Thormann, Anja; Maschke-Dutz, Elisabeth; Perez-Jurado, Luis A.; Lehrach, Hans; Herwig, Ralf
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