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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Authors :
Fallerini, Chiara Picchiotti, Nicola Baldassarri, Margherita Zguro, Kristina Daga, Sergio Fava, Francesca Benetti, Elisa Amitrano, Sara Bruttini, Mirella Palmieri, Maria Croci, Susanna Lista, Mirjam Beligni, Giada Valentino, Floriana Meloni, Ilaria Tanfoni, Marco Minnai, Francesca Colombo, Francesca Cabri, Enrico Fratelli, Maddalena Gabbi, Chiara Mantovani, Stefania Frullanti, Elisa Gori, Marco Crawley, Francis P Butler-Laporte, Guillaume Richards, Brent Zeberg, Hugo Lipcsey, Miklos Hultström, Michael Ludwig, Kerstin U Schulte, Eva C Pairo-Castineira, Erola Baillie, John Kenneth Schmidt, Axel Frithiof, Robert Mari, Francesca Renieri, Alessandra Furini Simone Simone Furini Francesca, Montagnani Mario, Tumbarello Ilaria, Rancan Massimiliano, Fabbiani Barbara, Rossetti Laura, Bergantini Miriana, D'Alessandro Paolo, Cameli David, Bennett Federico, Anedda Simona, Marcantonio Sabino, Scolletta Federico, Franchi Maria Antonietta Mazzei Susanna, Guerrini Edoardo, Conticini Luca, Cantarini Bruno, Frediani Danilo, Tacconi Chiara Spertilli Raffaelli Marco, Feri Alice, Donati Raffaele, Scala Luca, Guidelli Genni, Spargi Marta, Corridi Cesira, Nencioni Leonardo, Croci Gian Piero Caldarelli Maurizio, Spagnesi Davide, Romani Paolo, Piacentini Maria, Bandini Elena, Desanctis Silvia, Cappelli Anna, Canaccini Agnese, Verzuri Valentina, Anemoli Manola, Pisani Agostino, Ognibene Alessandro, Pancrazzi Maria, Lorubbio Massimo, Vaghi Antonella, D 'Arminio Monforte Federica Gaia Miraglia Mario, U Mondelli Massimo, Girardis Sophie, Venturelli Stefano, Busani Andrea, Cossarizza Andrea, Antinori Alessandra, Vergori Arianna, Emiliozzi Stefano, Rusconi Matteo, Siano Arianna, Gabrieli Agostino, Riva Daniela, Francisci Elisabetta, Schiaroli Francesco, Paciosi Andrea, Tommasi Pier Giorgio Scotton Francesca, Andretta Sandro, Panese Stefano, Baratti Renzo, Scaggiante Francesca, Gatti Saverio Giuseppe Parisi Francesco, Castelli Eugenia, Quiros-Roldan Melania Degli Antoni Isabella, Zanella Matteo Della Monica Carmelo, Piscopo Mario, Capasso Roberta, Russo Immacolata, Andolfo Achille, Iolascon Giuseppe, Fiorentino Massimo, Carella Marco, Castori Filippo, Aucella Pamela, Raggi Rita, Perna Matteo, Bassetti Antonio Di Biagio Maurizio, Sanguinetti Luca, Masucci Alessandra, Guarnaccia Serafina, Valente Oreste De Vivo Gabriella, Doddato Rossella, Tita Annarita, Giliberti Maria Antonietta Mencarelli Caterina Lo Rizzo Anna Maria Pinto Valentina, Perticaroli Francesca, Ariani Miriam Lucia Carriero Laura Di Sarno Diana, Alaverdian Elena, Bargagli Marco, Mandalà Alessia, Giorli Lorenzo, Salerni Patrizia, Zucchi Pierpaolo, Parravicini Elisabetta, Menatti Tullio, Trotta Ferdinando, Giannattasio Gabriella, Coiro Fabio, Lena Leonardo Gianluca Lacerenza Domenico, A Coviello Cristina, Mussini Enrico, Martinelli Sandro, Mancarella Luisa, Tavecchia Mary Ann Belli Lia, Crotti Gianfranco, Parati Maurizio, Sanarico Francesco, Raimondi Filippo, Biscarini Alessandra, Stella Marco, Rizzi Franco, Maggiolo Diego, Ripamonti Claudia, Suardi Tiziana, Bachetti Maria Teresa La Rovere Simona, Sarzi-Braga Maurizio, Bussotti Katia, Capitani Simona, Dei Sabrina, Ravaglia Rosangela, Artuso Elena, Andreucci Giulia, Gori Angelica, Pagliazzi Erika, Fiorentini Antonio, Perrella Francesco, Bianchi Paola, Bergomi Emanuele, Catena Riccardo, Colombo Sauro, Luchi Giovanna, Morelli Paola, Petrocelli Sarah, Iacopini Sara, Modica Silvia, Baroni Francesco Vladimiro Segala Francesco, Menichetti Marco, Falcone Giusy, Tiseo Chiara, Barbieri Tommaso, Matucci Grassi, Davide Ferri, Claudio Marinangeli, Franco Brancati, Francesco Antonella, Vincenti Valentina, Borgo Lombardi, Stefania Mirco, Lenzi Massimo Antonio Di Pietro Francesca, Vichi Benedetta, Romanin Letizia, Attala Cecilia, Costa Andrea, Gabbuti Menè, Roberto Umberto, Zuccon Lucia, Vietri Stefano, Ceri Pietro, Pinoli Patrizia, Casprini Giuseppe, Merla Gabriella Maria Squeo Marcello, Maffezzoni Raffaele, Bruno Marco, Vecchia Marta, Colaneri Serena, Ludovisi Yanara, Marincevic-Zuniga Jessica, Nordlund Tomas, Luther Anders, Larsson Katja Hanslin Anna Gradin Sarah, Galien Sara Bulow Anderberg Jacob, Rosén Sten, Rubertsson Hugo, Zeberg Robert, Frithiof Miklós, Lipcsey Michael, Hultström Sara Clohisey Peter Horby Johnny, Millar Julian, Knight Hugh, Montgomery David, Maslove Lowell, Ling Alistair, Nichol Charlotte, Summers Tim, Walsh Charles, Hinds Malcolm, G Semple Peter J, M Openshaw Manu, Shankar-Hari Antonia, Ho Danny, Mcauley Chris, Ponting Kathy, Rowan J Kenneth Baillie Fiona, Griffiths Wilna, Oosthuyzen Jen, Meikle Paul, Finernan James, Furniss Ellie, Mcmaster Andy, Law Sara, Clohisey Trevor, Paterson Tony, Wackett Ruth, Armstrong Lee, Murphy Angie, Fawkes Richard, Clark Audrey, Coutts Lorna, Donnelly Tammy, Gilchrist Katarzyna, Hafezi Louise, Macgillivray Alan, Maclean Sarah, Mccafferty Kirstie, Morrice Jane, Weaver Ceilia, Boz Ailsa, Golightly Mari, Ward Hanning, Mal Helen, Szoor-McElhinney Adam, Brown Ross, Hendry Andrew, Stenhouse Louise, Cullum Dawn, Law Sarah, Law Rachel, Law Max Head Fourman Maaike, Swets Nicky, Day Filip, Taneski Esther, Duncan Marie, Zechner Nicholas, Parkinson Erola, Pairo-Castineira Lucija, Klaric Andrew, D Bretherick Konrad, Rawlik Dorota, Pasko Susan, Walker Nick, Parkinson Clark, D Russell Anne, Richmond Elvina, Gountouna David, Harrison Wang, Bo Yang, Wu Alison, Meynert Athanasios, Kousathanas Loukas, Moutsianas Zhijian, Yang Ranran, Zhai Chenqing, Zheng Graeme, Grimes Jonathan, Millar Barbara, Shih Jian, Yang Xia, Shen Chris, P Ponting Albert, Tenesa Andrew, Law Veronique, Vitart James, F Wilson Collier, D Wood, S Zak, A Borra, C Matharu, M May, P Alldis, Z Mitchelmore, O Bowles, R Easthorpe, A Bibi, F Lancoma-Malcolm, I Gurasashvili, J Pheby, J Shiel, J Bolton, M Patel, M Taylor, M Zongo, O Ebano, P Harding, P Astin-Chamberlain, R Choudhury, Y Cox, A Kallon, D Burton, M Hall, R Blowes, S Prime, Z Biddle, J Prysyazhna, O Newman, T Tierney, C Kassam, J Shankar-Hari, M Ostermann, M Campos, S Bociek, A Lim, R Grau, N O Jones, T Whitton, C Marotti, M Arbane, G Bonner, S Hugill, K Reid, J Welters, I Waugh, V Williams, K Shaw, D J Fernandez Roman M Lopez Martinez Johnson, E Waite, A Johnson, B Hamilton, O Mulla, S Mcphail, M Smith, J K Baillie, J Barclay, L Hope, D Mcculloch, C Mcquillan, L Clark, S Singleton, J Priestley, K Rea, N Callaghan, M Campbell, R Andrew, G Marshall, L Mckechnie, S Hutton, P Bashyal, A Davidson, N Summers, C Polgarova, P Stroud, K Pathan, N Elston, K Agrawal, S Battle, C Newey, L Rees, T Harford, R Brinkworth, E Williams, M Murphy, C White, I Croft, M Bandla, N Gellamucho, M Tomlinson, J Turner, H Davies, M Quinn, A Hussain, I Thompson, C Parker, H Bradley, R Griffiths, R Scriven, J Gill, J Puxty, A Cathcart, S Salutous, D Turner, L Duffy, K Puxty, K Joseph, A Herdman-Grant, R Simms, R Swain, A Naranjo, A Crowe, R Sollesta, K Loveridge, A Baptista, D Morino, E Davey, M Golden, D Jones, J J Moreno Cuesta Haldeos, A Bakthavatsalam, D Vincent, R Elhassan, M Xavier, K Ganesan, A Purohit, D Abdelrazik, M Morgan, J Akeroyd, L Bano, S Warren, D Bromley, M Sellick, K Gurr, L Wilkinson, B Nagarajan, V Szedlak, P Cupitt, J Stoddard, E Benham, L Preston, S Slawson, N Bradshaw, Z Brown, J Caswell, M Smelling Bamford, P Faulkner, M Cawley, K Jeffrey, H London, E Sainsbury, H Nagra, I Nasir, F Dunmore, Ce Jones, R Abraheem, A Al-Moasseb, M Girach, R Brantwood, C Alexander, P Bradley-Potts, J Allen, S Felton, T Manna, S Farnell-Ward, S Leaver, S Queiroz, J Maccacari, E Dawson, D C Castro Delgado R Pepermans Saluzzio Ezeobu, O Ding, L Sicat, C Kanu, R Durrant, G Texeira, J Harrison, A Samakomva, T Willis, H Hopkins, B Thrasyvoulou, L Jackson, M Zaki, A Tibke, C Bennett, S Woodyatt, W Kent, A Goodwin, E Brandwood, C Clark, R Smith, L Rooney, K Thomson, N Rodden, N Hughes, E Mcglynn, D Clark, C Clark, P Abel, L Sundaram, R Gemmell, L Brett, M Hornsby, J Macgoey, P Price, R Digby, B O'Neil, P Mcconnell, P Henderson, P Henderson, S Sim, M Kennedy-Hay, S Mcparland, C Rooney, L Baxter, N Pogson, D Rose, S Daly, Z Brimfield, L K Phull, M Hussain, M Pogreban, T Rosaroso, L E Salciute, L Grauslyte Brealey, D Wraith, E Maccallum, N Bercades, G Hass, I Smyth, D Reyes, A Martir, G D Clement, I Webster, K Hays, C Gulati, A Hodgson, L Margarson, M Gomez, R Baird, Y Thirlwall, Y Folkes, L Butler, A Meadows, E Moore, S Raynard, D Fox, H Riddles, L King, K Kimber, S Hobden, G Mccarthy, A Cannons, V Balagosa, I Chadbourn, I Gardner, A Horner, D Mclaughlanv, D Charles, B Proudfoot, N Marsden, T L Mc Morrow Blackledge, B Pendlebury, J Harvey, A Apetri, E Basikolo, C Catlow, L Doonan, R Knowles, K Lee, S Lomas, D Lyons, C Perez, J Poulaka, M Slaughter, M Slevin, K Thomas, V Walker, D Harris, J Drummond, A Tully, R Dearden, J Philbin, J Munt, S Rishton, C O'Connor, G Mulcahy, M Dobson, E Cuttler, J Edward, M Rose, A Sloan, B Buckley, S Brooke, H Smithson, E Charlesworth, R Sandu, R Thirumaran, M Wagstaff, V J Cebrian Suarez Kaliappan, A Vertue, M Nicholson, A Riches, J Solesbury, A Kittridge, L Forsey, M Maloney, G Cole, J Davies, R Hill, H Thomas, E Williams, A Duffin, D Player, B Radhakrishnan, J Gibson, S Lyle, A Mcneela, F Patel, B Gummadi, M Sloane, G Dormand, N Salmi, S Farzad, Z Cristiano, D Liyanage, K Thwaites, V Varghese, M Meredith, M Mills, G Willson, J Harrington, K Lenagh, B Cawthron, K Masuko, S Raithatha, A Bauchmuller, K Ahmad, N Barker, J Jackson, Y Kibutu, F Bird, S Watson, G Martin, J Bevan, E C Wrey Brown Trodd, D English, K Bell, G Wilcox, L Katary, A Gopal, S Lake, V Harris, N Metherell, S Radford, E Moore, F Bancroft, H Daglish, J Sangombe, M Carmody, M Rhodes, J Bellamy, M Garg, A Kuravi, A Virgilio, E Ranga, P Butler, J Botfield, L Dexter, C Fletcher, J Shanmugasundaram, P Hambrook, G Burn, I Manso, K Thornton, D Tebbutt, J Penn, R Hulme, J Hussain, S Maqsood, Z Joseph, S Colley, J Hayes, A Ahmed, C Haque, R Clamp, S Kumar, R Purewal, M Baines, B Frise, M Jacques, N Coles, H Caterson, J S Gurung Rai Brunton, M Tilney, E Keating, L Walden, A Antcliffe, D Gordon, A Templeton, M Rojo, R Banach, D S Sousa Arias Fernandez, Z Coghlan, P Williams, D Jardine, C Bewley, J Sweet, K Grimmer, L Johnson, R Garland, Z Gumbrill, B Phillips, C L Ortiz-Ruiz de Gordoa Peasgood, E Tridente, A K Shuker, S Greer Lynch, C Pothecary, C Roche, L Deacon, B Turner, K Singh, J G Sera Howe Paul, P Gill, M Wynter, I Ratnam, V Shelton, S Naisbitt, J Melville, J Baruah, R Morrison, S Mcgregor, A Parris, V Mpelembue, M Srikaran, S Dennis, C Sukha, A Verlande, M Holding, K Riches, K Downes, C Swan, C Rostron, A Roy, A Woods, L Cornell, S Wakinshaw, F Creagh-Brown, B Blackman, H Salberg, A Smith, E Donlon, S Mtuwa, S Michalak-Glinska, N Stone, S Beazley, C Pristopan, V Nikitas, N Lankester, L Wells, C S Raj, A Fletcher, K Khade, R Tsinaslanidis, G Mcmahon, M Fowler, S Coventry, T Stewart, R Wren, L Mwaura, E Mew, L Scaletta, D Williams, F Inweregbu, K Lancaster, N Cunningham, M Daniels, A Harrison, L Hope, S Jones, S Crew, A Wray, G Matthews, J Crawley, R Carter, J Birkinshaw, I Ingham, J Scott, Z Howard, K Joy, R Roche, S Clark, M Purvis, S Morrison, A Strachan, D Clements, S Black, K Parmar, C Altabaibeh, A Simpson, K Mostoles, L Gilbert, K L, Ma Alvaro, A Thomas, M Faulkner, B Worner, R Hayes, K Gendall, E Blakemore, H Borislavova, B Goff, E Vuylsteke, A Mwaura, L Zamikula, J Garner, L Mitchell, A Mepham, S Cagova, L Fofano, A Holcombe, H Praman, K Szakmany, T E Heron, A Cherian, S Cutler, S Roynon-Reed, A Randell, G Convery, K K Stammers, D Fottrell-Gould Hudig, L Keshet-Price, J Peters, M O'Neill, L Ray, S Belfield, H Mchugh, T Jones, G Akinkugbe, O Tomas, A Abaleke, E Beech, E Meghari, H Yussuf, S Bamford, A Hairsine, B Dooks, E Farquhar, F Packham, S Bates, H Armstrong, L Kaye, C Allan, A Medhora, J Liew, J Botello, A Anderson, F Cusack, R Golding, H Prager, K Williams, T Leggett, S Golder, K Male, M Jones, O Criste, K Marani, M Anumakonda, V Amin, V Karthik, K Kausar, R Anastasescu, E Reid, K Jacqui, M Hormis, A Walker, R Duncan, T Uriel, A Ustianowski, A T-Michael, H Bruce, M Connolly, K Smith, K Partridge, R Griffin, D Mcdonald, M Muchenje, N Martin, D Filipe, H Eastgate, C Jackson, C Gratrix, A Foster, L Martinson, V Stones, E Caroline, Abernathy Parkinson, P Reed, A Prendergast, C Rogers, P Woodruff, M Shokkar, R Kaul, S Barron, A Collins, C Beavis, S Whileman, A Dale, K Hawes, J Pritchard, K Gascoyne, R Stevenson, L Jha, R Lim, L Krishnamurthy, V Parker, R Turner-Bone, I Wilding, L Reddy, A Whiteley, S Wilby, E Howcroft, C Aspinwall, A Charlton, S Ogg, B Menzies, D Pugh, R Allan, E Lean, R Davies, F Easton, J Qiu, X Kumar, S Darlington, K Houston, G O'Brien, P Geary, T Allan, J Meikle, A Hughes, G Balasubramaniam, M Latham, S Mckenna, E Flanagan, R Sathe, S Davies, E Chablani, M Kirkby, A Netherton, K Archer, S Yates, B Ashbrook-Raby, C Cole, S Casey, M Cabrelli, L Chapman, S Austin, P Hutcheon, A Whyte, C Almaden-Boyle, C Pattison, N Cruz, C Vochin, A Kent, H Thomas, A Murdoch, S David, B Penacerrada, M Lubimbi, G Bastion, V Wulandari, R Valentine, J Clarke, D Serrano-Ruiz, A Hierons, S Ramos, L Demetriou, C Mitchard, S White, K White, N Pitts, S Branney, D Frankham, J Watters, M Langton, H Prout, R Page, V Varghes, T Cowton, A Kay, A Potts, K Birt, M Kent, M Wilkinson, A Jude, E Turner, V Savill, H Mccormick, J Coulding, M Siddiqui, S Mercer, O Rehman, H Potla, D Capps, N Donaldson, D Button, H Martin, T Hard, K Agasou, A Tonks, L Arden, T Boyle, P Carnahan, M Strickley, J Adams, C Childs, D Rikunenko, R Leigh, M Breekes, M Wilcox, R Bowes, A Tiveran, H Hurford, F Summers, J Carter, A Hussain, Y Ting, L Javaid, A Motherwell, N Moore, H Millward, H Jose, S Schunki, N Noakes, A Clulow, C Sadera, G Jacob, R Jones, C Blunt, M Coton, Z Curgenven, H S Mohamed Ally Beaumont, K Elsaadany, M Fernandes, K I Ali Mohamed Ali Rangarajan, H Sarathy, V Selvanayagam, S Vedage, D White, M Smith, M Truman, N Chukkambotla, S Keith, S Cockerill-Taylor, J Ryan-Smith, J Bolton, R Springle, P Dykes, J Thomas, J Khan, M T Hijazi, M Massey, E Croston, G Reschreiter, H Camsooksai, J Patch, S Jenkins, S Humphrey, C Wadams, B Bhatia, N Msiska, M Adanini, O Attwood, B Parsons, P Tatham, K Jhanji, S Black, E A Dela Rosa Howle, R Thomas, B Bemand, T Raobaikady, R Saha, R Staines, N Daniel, A Finn, J Hutter, J Doble, P Shovelton, C Pawley, C Kannan, T Hill, M Combes, E Monnery, S Joefield, T Popescu, M Thankachen, M Oblak, M Little, J Mcivor, S Brady, A Whittle, H Prady, H Chan, R Ahmed, A Morris, A Gibson, C Gordon, E Keenan, S Quinn, H Benyon, S Marriott, S Zitter, L Park, L Baines, K Lyons, M Holland, M Keenan, N Young, M Garrioch, S Dawson, J Tolson, M Scholefield, B R, Bi Richardson, N Schumacher, N Cosier, T Millen, G Higham, A Turki, S Allen, L Crisp, N Hazleton, T Knight, A Deery, J Price, C Turney, S Tilbey, S Beranova, E Wright, D Georg, L Twiss, S Wadd, S Postlethwaite, K Gondo, P Masunda, B Kayani, A Hadebe, B Whiteside, J Clarke, N Donnison, P Trim, F Leadbitter, I Butcher, D O'Sullivan, S Purewal, B Bell, S Rivers', V O'Leary, R Birch, J Collins, E Anderson, S Hammerton, K Andrews, E Burns, K Edmond, I Todd, A Donnachie, J Turner, P Prentice, L Symon, L Runciman, N Auld, F Halkes, M Mercer, P Thornton, L Debreceni, G Wilkins, J Brown, A Crickmore, V Subramanian, G Marshall, R Jennings, C Latif, M Bunni, L Spivey, M Bean, S Burt, K Linnett, V Ritzema, J Sanderson, A Mccormick, W Bokhari, M Kapoor, R Loader, D Ayers, A Harrison, W North, J Belagodu, Z Parasomthy, R Olufuwa, O Gherman, A Fuller, B Stuart, C Kelsall, O Davis, C Wild, L Wood, H Thrush, J Durie, A Austin', K Archer, K Anderson, P Vigurs, C Thorpe, C Knights, E Boyle, N Price, A Kubisz-Pudelko, A Wood, D Lewis, A Board, S Pippard, L Perry, J Beesley, K Rattray, A Lee, E Lennon, L Douglas, K Bell, D Boyle, R Glass, L M Nauman Akhtar Dent, K Potoczna, D Pearson, S Horsley, E Spencer, S Mullan, D Skinner, D Gaylard, J Ortiz-Ruizdegordoa, L Barber, R Hewitt, C Hilldrith, A Shepardson, S Wills, M Jackson-Lawrence, K Gupta, A Easthope, A Timlick, E Gorman, C Otaha, I Gales, A Coetzee, S Raj, M Peiu, M Quaid, S Watson, E Elliott, K Mallinson, J Chandler, B Turnbull, A Finch, C Holl, C Cooper, J Evans, A Khaliq, W Collins, A E Treus Gude Love, N L van Koutrik Hunt, J Kaye, D Fisher, E Brayne, A Tuckey, V Jackson, P Parkin, J Raith, E Tariq, A Houlden, H Tucci, A Hardy, J Moncur, E Highgate, J Cowley, A Mitra, A Stead, R Behan, T Burnett, C Newton, M Heeney, E Pollard, R Hatton, J Patel, A Kasipandian, V Allibone, S M Genetu, R Otahal, I O'Brien, L Omar, Z Perkins, E Davies, K Tetla, D Shelley, B Irvine, V Williams, S Williams, P Goodsell, J Tutton, R Bough, L Winter-Goodwin, B Kitson, R Pinnell, J Wilson, A Nortcliffe, T Wood, T Home, M Holdroyd, K Robinson, M Shaw, R Greig, J Brady, M Haigh, A Matupe, L Usher, M Mellor, S Dale, S Gledhill, L Shaw, L Turner, G Kelly, D Anwar, B Riley, H Sturgeon, H Ali, A Thomis, L Melia, D Dance, A Hanson, K Humphreys, S Frost, I Gopal, V Godden, J Holden, A Swann, S Smith, T Clapham, M Poultney, U Harper, R Rice, P Reece-Anthony, R Gurung, B Moultrie, S Odam, M Mayer, A Bellini, A Pickard, A Bryant, J Roe, N Sowter, J Lang, K Taylor, J Barry, P Hobrok, M Tench, H Wolf-Roberts, R Mcguinness, H Loosley, R Hawcutt, D Rad, L O'Malley, L Saunderson, P Seddon, G Anderson, T Rogers, N Ruddy, J Harkins, M Beith, C Mcalpine, A Ferguson, L Grant, P Macfadyen, S Mclaughlin, M Baird, T Rundell, S Welsh, B Hamill, R Fisher, F Gregory, J Axel, Schmidt Kerstin, U Ludwig Selina, Rolker Markus, M Nöthen Julia, Fazaal Verena, Keitel Björn, Jensen Torsten, Feldt Lisa, Knopp Julia, Schröder Carlo, Maj Fabian, Brand Marc, M Berger Thorsten, Brenner Anke, Hinney Oliver, Witzke Robert, Bals Christian, Herr Nicole, Ludwig Jörn, Walter Jochen, Schneider Johanna, Erber Christoph, D Spinner Clemens, M Wendtner Christof, Winter Ulrike, Protzer Nicolas, Casadei Stephan, Ossowski Olaf, H Riess Eva, C Schulte J Brent Richards Guillaume, Butler-Laporte Mirosław, Kwasniewski Urszula, Korotko Karolina, Chwialkowska Magdalena, Niemira Jerzy, Jaroszewicz Barbara, Sobala-Szczygiel Beata, Puzanowska Anna, Parfieniuk-Kowerda Diana, Martonik Anna, Moniuszko-Malinowska Sławomir, Pancewicz Dorota, Zarębska-Michaluk Krzysztof, Simon Monika, Pazgan-Simon Iwona, Mozer-Lisewska Maciej, Bura Agnieszka, Adamek Krzysztof Tomasiewicz Małgorzata Pawłowska Anna, Piekarska Aleksandra, Berkan-Kawinska Andrzej, Horban Justyna, Kowalska Regina, Podlasin Piotr, Wasilewski Arsalin, Azzadin Miroslaw, Czuczwar Slawomir, Czaban Paweł, Olszewski Jacek, Bogocz Magdalena, Ochab Anna, Kruk Sandra, Uszok Agnieszka, Bielska Anna, Szałkowska Justyna, Raczkowska Gabriela, Sokołowska Joanna, Chorostowska-Wynimko Aleksandra, Jezela-Stanek Adriana, Roży Urszula, Lechowicz Urszula, Polowianiuk Kamil, Grubczak Aleksandra, Starosz Andrzej, Eljaszewicz Wiktoria, Izdebska Adam, Krętowski Robert, Flisiak Marcin Moniuszko Malak Abedalthagafi Manal Alaamery Salam, Massadeh Mohamed, Fawzy Hadeel, Albardis Nora, Aljawini Moneera, Alsuwailm Faisal, Almalki Serghei, Mangul Junghyun, Jung Hamdi, Mbarek Chadi, Saad Yaser, Al-Sarraj Wadha, Al-Muftah Radja, Badji Asma Al Thani Said, I Ismail HGI, WES/WGS Working Group Within the Consortium, GenOMICC Study, GEN-COVID Multicenter Renieri, Alessandra [0000-0002-0846-9220] Apollo - University of Cambridge Repository NIHR Fallerini, C Picchiotti, N Baldassarri, M Zguro, K Daga, S Fava, F Benetti, E Amitrano, S Bruttini, M Palmieri, M Croci, S Lista, M Beligni, G Valentino, F Meloni, I Tanfoni, M Minnai, F Colombo, F Cabri, E Fratelli, M Gabbi, C Mantovani, S Frullanti, E Gori, M Crawley, F Butler-Laporte, G Richards, B Zeberg, H Lipcsey, M Hultström, M Ludwig, K Schulte, E Pairo-Castineira, E Baillie, J Schmidt, A Frithiof, R Mari, F Renieri, A Furini, S Crotti, L
Source :
Human genetics 141 (2021): 147–173. doi:10.1007/s00439-021-02397-7, info:cnr-pdr/source/autori:Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieril, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P.; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultstrom, Michael; Ludwig, Kerstin U.; Schulte, Eva C.; Pairo-Castineira, Erola; Baillie, John Kenneth; Schmidt, Axel; Frithiof, Robert; Mari, Francesca; Renieri, Alessandra; Furini, Simone; GEN-COVID Multicenter Study (which includes Alessandra Stella and Filippo Biscarini)/titolo:Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity/doi:10.1007%2Fs00439-021-02397-7/rivista:Human genetics/anno:2021/pagina_da:147/pagina_a:173/intervallo_pagine:147–173/volume:141, Human genetics, Hum. Genet. 141, 147-173 (2022), Human Genetics, 2021, ' Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity ', Human Genetics . https://doi.org/10.1007/s00439-021-02397-7
Publication Year :
2021
Publisher :
Cold Spring Harbor Laboratory, 2021.
Abstract
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. Supplementary Information The online version contains supplementary material available at 10.1007/s00439-021-02397-7.
Details
Database :
OpenAIRE
Journal :
Human genetics 141 (2021): 147–173. doi:10.1007/s00439-021-02397-7, info:cnr-pdr/source/autori:Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieril, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P.; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultstrom, Michael; Ludwig, Kerstin U.; Schulte, Eva C.; Pairo-Castineira, Erola; Baillie, John Kenneth; Schmidt, Axel; Frithiof, Robert; Mari, Francesca; Renieri, Alessandra; Furini, Simone; GEN-COVID Multicenter Study (which includes Alessandra Stella and Filippo Biscarini)/titolo:Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity/doi:10.1007%2Fs00439-021-02397-7/rivista:Human genetics/anno:2021/pagina_da:147/pagina_a:173/intervallo_pagine:147–173/volume:141, Human genetics, Hum. Genet. 141, 147-173 (2022), Human Genetics, 2021, ' Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity ', Human Genetics . https://doi.org/10.1007/s00439-021-02397-7
Accession number :
edsair.doi.dedup.....e4836dbe8027e2289c8e8ff11bfe68cc