%0 Journal Article %1 journals/nature/TurroAMGGSASFTS20 %A Turro, Ernest %A Astle, William J. %A Megy, Karyn %A Gräf, Stefan %A Greene, Daniel %A Shamardina, Olga %A Allen, Hana Lango %A Sanchis-Juan, Alba %A Frontini, Mattia %A Thys, Chantal %A Stephens, Jonathan %A Mapeta, Rutendo %A Burren, Oliver S. %A Downes, Kate %A Haimel, Matthias %A Tuna, Salih %A Deevi, Sri V. V. %A Aitman, Timothy J. %A Bennett, David L. H. %A Calleja, Paul %A Carss, Keren %A Caulfield, Mark J. %A Chinnery, Patrick F. %A Dixon, Peter H. %A Gale, Daniel P. %A James, Roger %A Koziell, Ania %A Laffan, Michael A. %A Levine, Adam P. %A Maher, Eamonn R. %A Markus, Hugh S. %A Morales, Joannella %A Morrell, Nicholas W. %A Mumford, Andrew D. %A Ormondroyd, Elizabeth %A Rankin, Stuart %A Rendon, Augusto %A Richardson, Sylvia %A Roberts, Irene %A Roy, Noemi B. A. %A Saleem, Moin A. %A Smith, Kenneth G. C. %A Stark, Hannah %A Tan, Rhea Y. Y. %A Themistocleous, Andreas C. %A Thrasher, Adrian J. %A Watkins, Hugh %A Webster, Andrew R. %A Wilkins, Martin R. %A Williamson, Catherine %A Whitworth, James %A Humphray, Sean %A Bentley, David R. %A Abbs, Stephen %A Abulhoul, Lara %A Adlard, Julian %A Ahmed, Munaza %A Alachkar, Hana %A Allsup, David J. %A Almeida-King, Jeff %A Ancliff, Philip %A Antrobus, Richard %A Armstrong, Ruth %A Arno, Gavin %A Ashford, Sofie %A Attwood, Anthony %A Aurora, Paul %A Babbs, Christian %A Bacchelli, Chiara %A Bakchoul, Tamam %A Banka, Siddharth %A Bariana, Tadbir %A Barwell, Julian %A Batista, Joana %A Baxendale, Helen E. %A Beales, Phil L. %A Bierzynska, Agnieszka %A Biss, Tina %A Bitner-Glindzicz, Maria A. K. %A Black, Graeme C. M. %A Bleda, Marta %A Blesneac, Iulia %A Bockenhauer, Detlef %A Bogaard, Harm %A Bourne, Christian J. %A Boyce, Sara %A Bradley, John R. %A Bragin, Eugene %A Breen, Gerome %A Brennan, Paul %A Brewer, Carole %A Brown, Matthew %A Browning, Andrew C. %A Browning, Michael J. %A Buchan, Rachel J. %A Buckland, Matthew S. %A Bueser, Teofila %A Diz, Carmen Bugarin %A Burn, John %A Burns, Siobhan O. %A Burrows, Nigel %A Campbell, Carolyn %A Carr-White, Gerald %A Casey, Ruth %A Chambers, Jenny %A Chambers, John %A Chan, Melanie M. Y. %A Cheah, Calvin %A Cheng, Floria %A Chitre, Manali %A Christian, Martin T. %A Church, Colin %A Clayton-Smith, Jill %A Cleary, Maureen %A Brod, Naomi Clements %A Coghlan, Gerry %A Colby, Elizabeth %A Cole, Trevor R. P. %A Collins, Janine %A Collins, Peter W. %A Colombo, Camilla %A Compton, Cecilia J. %A Condliffe, Robin %A Cook, Stuart A. %A Cook, H. Terence %A Cooper, Nichola %A Corris, Paul A. %A Furnell, Abigail %A Cunningham, Fiona %A Curry, Nicola S. %A Cutler, Antony J. %A Daniels, Matthew J. %A Dattani, Mehul %A Daugherty, Louise C. %A Davis, John %A Soyza, Anthony De %A Dent, Timothy %A Deshpande, Charu %A Dewhurst, Eleanor F. %A Douzgou, Sofia %A Drazyk, Anna M. %A Drewe, Elizabeth %A Duarte, Daniel %A Dutt, Tina %A Edgar, J. David M. %A Edwards, Karen %A Egner, William %A Ekani, Melanie N. %A Elliott, Perry %A Erber, Wendy N. %A Erwood, Marie %A Estiu, Maria C. %A Evans, Dafydd Gareth %A Evans, Gillian %A Everington, Tamara %A Eyries, Mélanie %A Fassihi, Hiva %A Favier, Remi %A Findhammer, Jack %A Fletcher, Debra %A Flinter, Frances A. %A Floto, R. Andres %A Fowler, Tom %A Fox, James %A Frary, Amy J. %A French, Courtney E. %A Freson, Kathleen %A Gall, Henning %A Ganesan, Vijeya %A Gattens, Michael %A Geoghegan, Claire %A Gerighty, Terence S. A. %A Gharavi, Ali G. %A Ghio, Stefano %A Ghofrani, Hossein-Ardeschir %A Gibbs, J. Simon R. %A Gibson, Kate %A Gilmour, Kimberly C. %A Girerd, Barbara %A Gleadall, Nicholas S. %A Goddard, Sarah %A Goldstein, David B. %A Gomez, Keith %A Gordins, Pavels %A Gosal, David %A Graham, Jodie %A Grassi, Luigi %A Greenhalgh, Lynn %A Greinacher, Andreas %A Gresele, Paolo %A Griffiths, Philip %A Grigoriadou, Sofia %A Grocock, Russell J. %A Grozeva, Detelina %A Gurnell, Mark %A Hackett, Scott %A Hadinnapola, Charaka %A Hague, William M. %A Hague, Rosie %A Hall, Matthew %A Hanson, Helen L. %A Haque, Eshika %A Harkness, Kirsty %A Harper, Andrew R. %A Harris, Claire L. %A Hart, Daniel %A Hassan, Ahamad %A Hayman, Grant %A Henderson, Alex %A Herwadkar, Archana %A Hoffman, Jonathan %A Holden, Simon %A Horvath, Rita %A Houlden, Henry %A Houweling, Arjan C. %A Howard, Luke S. G. E. %A Hu, Fengyuan %A Hudson, Gavin %A Hughes, Joseph %A Huissoon, Aarnoud P. %A Humbert, Marc %A Hunter, Sarah %A Hurles, Matthew E. %A Irving, Melita %A Izatt, Louise %A Johnson, Sally A. %A Jolles, Stephen %A Jolley, Jennifer %A Josifova, Dragana %A Jurkute, Neringa %A Karten, Tim %A Karten, Johannes %A Kasanicki, Mary A. %A Kazkaz, Hanadi %A Kazmi, Rashid %A Kelleher, Peter %A Kelly, Anne M. %A Kelsall, Wilf %A Kempster, Carly %A Kiely, David G. %A Kingston, Nathalie %A Klima, Robert %A Koelling, Nils %A Kostadima, Myrto %A Kovacs, Gabor %A Kreuzhuber, Roman %A Kuijpers, Taco W. %A Kumar, Ajith %A Kumararatne, Dinakantha %A Kurian, Manju A. %A Lalloo, Fiona %A Lambert, Michele %A Lawrie, Allan %A Layton, D. Mark %A Lench, Nick %A Lentaigne, Claire %A Lester, Tracy %A Linger, Rachel %A Longhurst, Hilary %A Lorenzo, Lorena E. %A Louka, Eleni %A Lyons, Paul A. %A Machado, Rajiv D. %A Ross, Robert V. MacKenzie %A Madan, Bella %A Maimaris, Jesmeen %A Malka, Samantha %A Mangles, Sarah %A Marchbank, Kevin J. %A Marks, Stephen %A Marschall, Hanns-Ulrich %A Marshall, Andrew G. %A Martin, Jennifer %A Mathias, Mary %A Matthews, Emma %A Maxwell, Heather %A McAlinden, Paul %A McCarthy, Mark I. %A McKinney, Harriet %A McMahon, Aoife %A Meacham, Stuart %A Mead, Adam J. %A Castello, Ignacio Medina %A Mehta, Sarju G. %A Michaelides, Michel %A Millar, Carolyn %A Mohammed, Shehla N. %A Moledina, Shahin %A Montani, David %A Moore, Anthony T. %A Mozere, Monika %A Muir, Keith W. %A Nemeth, Andrea H. %A Newman, William G. %A Newnham, Michael %A Noorani, Sadia %A Nurden, Paquita %A O'Sullivan, Jennifer %A Obaji, Samya %A Odhams, Chris %A Okoli, Steven %A Olschewski, Andrea %A Olschewski, Horst %A Ong, Kai Ren %A Oram, S. Helen %A Ouwehand, Willem H. %A Palles, Claire %A Papadia, Sofia %A Park, Soo-Mi %A Parry, David %A Patel, Smita %A Paterson, Joan %A Peacock, Andrew %A Pearce, Simon H. %A Peden, John %A Peerlinck, Kathelijne %A Penkett, Christopher J. %A Pepke-Zaba, Joanna %A Petersen, Romina %A Pilkington, Clarissa %A Poole, Kenneth E. S. %A Prathalingam, Radhika %A Psaila, Bethan %A Pyle, Angela %A Quinton, Richard %A Rahman, Shamima %A Rao, Anupama %A Raymond, F. Lucy %A Rayner-Matthews, Paula J. %A Rees, Christine %A Renton, Tara %A Rhodes, Christopher J. %A Rice, Andrew S. C. %A Richter, Alex %A Robert, Leema %A Rogers, Anthony %A Rose, Sarah J. %A Ross-Russell, Robert %A Roughley, Catherine %A Ruddy, Deborah M. %A Sadeghi-Alavijeh, Omid %A Samani, Nilesh J. %A Samarghitean, Crina %A Sargur, Ravishankar B. %A Sarkany, Robert N. %A Satchell, Simon %A Savic, Sinisa %A Sayer, John A. %A Sayer, Genevieve %A Scelsi, Laura %A Schaefer, Andrew M. %A Schulman, Sol %A Scott, Richard %A Scully, Marie %A Searle, Claire %A Seeger, Werner %A Sen, Arjune %A Sewell, W. A. Carrock %A Seyres, Denis %A Shah, Neil %A Shapiro, Susan E. %A Shaw, Adam C. %A Short, Patrick J. %A Sibson, Keith %A Side, Lucy %A Simeoni, Ilenia %A Simpson, Michael A. %A Sims, Matthew C. %A Sivapalaratnam, Suthesh %A Smedley, Damian %A Smith, Katherine R. %A Snape, Katie %A Soranzo, Nicole %A Soubrier, Florent %A Southgate, Laura %A Spasic-Boskovic, Olivera %A Staines, Simon %A Staples, Emily %A Steward, Charles A. %A Stirrups, Kathleen E. %A Stuckey, Alex %A Suntharalingam, Jay %A Swietlik, Emilia M. %A Syrris, Petros %A Tait, R. Campbell %A Talks, Kate %A Tate, Katie %A Taylor, John M. %A Taylor, Jenny C. %A Thaventhiran, James E. %A Thomas, Ellen %A Thomas, David %A Thomas, Moira J. %A Thomas, Patrick %A Thomson, Kate %A Threadgold, Glen %A Tilly, Tobias %A Tischkowitz, Marc %A Titterton, Catherine %A Todd, John A. %A Toh, Cheng-Hock %A Tolhuis, Bas %A Tomlinson, Ian P. %A Toshner, Mark %A Traylor, Matthew %A Treacy, Carmen %A Treadaway, Paul %A Trembath, Richard %A Turek, Wojciech %A Twiss, Philip %A Vale, Tom %A Geet, Chris Van %A van Zuydam, Natalie %A Vandekuilen, Maarten %A Vandersteen, Anthony M. %A Vazquez-Lopez, Marta %A von Ziegenweidt, Julie %A Vonk-Noordegraaf, Anton %A Wagner, Annette %A Waisfisz, Quinten %A Walker, Suellen M. %A Walker, Neil %A Walter, Klaudia %A Ware, James S. %A Watt, Christopher %A Wedderburn, Lucy %A Wei, Wei %A Welch, Steven B. %A Wessels, Julie %A Westbury, Sarah K. %A Westwood, John-Paul %A Wharton, John %A Whitehorn, Deborah %A Wilkie, Andrew O. M. %A Wilson, Brian T. %A Wong, Edwin K. S. %A Wood, Nicholas W. %A Wood, Yvette %A Woods, Christopher Geoffrey %A Woodward, Emma R. %A Wort, Stephen J. %A Worth, Austen %A Wright, Michael %A Yates, Katherine %A Yong, Patrick F. K. %A Young, Timothy %A Yu, Ping %A Yu-Wai-Man, Patrick %A Zlamalova, Eliska %D 2020 %J Nat. %K dblp %N 7814 %P 96-102 %T Whole-genome sequencing of patients with rare diseases in a national health system. %U http://dblp.uni-trier.de/db/journals/nature/nature583.html#TurroAMGGSASFTS20 %V 583

@article{journals/nature/TurroAMGGSASFTS20, added-at = {2023-12-22T00:00:00.000+0100}, author = {Turro, Ernest and Astle, William J. and Megy, Karyn and Gräf, Stefan and Greene, Daniel and Shamardina, Olga and Allen, Hana Lango and Sanchis-Juan, Alba and Frontini, Mattia and Thys, Chantal and Stephens, Jonathan and Mapeta, Rutendo and Burren, Oliver S. and Downes, Kate and Haimel, Matthias and Tuna, Salih and Deevi, Sri V. V. and Aitman, Timothy J. and Bennett, David L. H. and Calleja, Paul and Carss, Keren and Caulfield, Mark J. and Chinnery, Patrick F. and Dixon, Peter H. and Gale, Daniel P. and James, Roger and Koziell, Ania and Laffan, Michael A. and Levine, Adam P. and Maher, Eamonn R. and Markus, Hugh S. and Morales, Joannella and Morrell, Nicholas W. and Mumford, Andrew D. and Ormondroyd, Elizabeth and Rankin, Stuart and Rendon, Augusto and Richardson, Sylvia and Roberts, Irene and Roy, Noemi B. A. and Saleem, Moin A. and Smith, Kenneth G. C. and Stark, Hannah and Tan, Rhea Y. Y. and Themistocleous, Andreas C. and Thrasher, Adrian J. and Watkins, Hugh and Webster, Andrew R. and Wilkins, Martin R. and Williamson, Catherine and Whitworth, James and Humphray, Sean and Bentley, David R. and Abbs, Stephen and Abulhoul, Lara and Adlard, Julian and Ahmed, Munaza and Alachkar, Hana and Allsup, David J. and Almeida-King, Jeff and Ancliff, Philip and Antrobus, Richard and Armstrong, Ruth and Arno, Gavin and Ashford, Sofie and Attwood, Anthony and Aurora, Paul and Babbs, Christian and Bacchelli, Chiara and Bakchoul, Tamam and Banka, Siddharth and Bariana, Tadbir and Barwell, Julian and Batista, Joana and Baxendale, Helen E. and Beales, Phil L. and Bierzynska, Agnieszka and Biss, Tina and Bitner-Glindzicz, Maria A. K. and Black, Graeme C. M. and Bleda, Marta and Blesneac, Iulia and Bockenhauer, Detlef and Bogaard, Harm and Bourne, Christian J. and Boyce, Sara and Bradley, John R. and Bragin, Eugene and Breen, Gerome and Brennan, Paul and Brewer, Carole and Brown, Matthew and Browning, Andrew C. and Browning, Michael J. and Buchan, Rachel J. and Buckland, Matthew S. and Bueser, Teofila and Diz, Carmen Bugarin and Burn, John and Burns, Siobhan O. and Burrows, Nigel and Campbell, Carolyn and Carr-White, Gerald and Casey, Ruth and Chambers, Jenny and Chambers, John and Chan, Melanie M. Y. and Cheah, Calvin and Cheng, Floria and Chitre, Manali and Christian, Martin T. and Church, Colin and Clayton-Smith, Jill and Cleary, Maureen and Brod, Naomi Clements and Coghlan, Gerry and Colby, Elizabeth and Cole, Trevor R. P. and Collins, Janine and Collins, Peter W. and Colombo, Camilla and Compton, Cecilia J. and Condliffe, Robin and Cook, Stuart A. and Cook, H. Terence and Cooper, Nichola and Corris, Paul A. and Furnell, Abigail and Cunningham, Fiona and Curry, Nicola S. and Cutler, Antony J. and Daniels, Matthew J. and Dattani, Mehul and Daugherty, Louise C. and Davis, John and Soyza, Anthony De and Dent, Timothy and Deshpande, Charu and Dewhurst, Eleanor F. and Douzgou, Sofia and Drazyk, Anna M. and Drewe, Elizabeth and Duarte, Daniel and Dutt, Tina and Edgar, J. David M. and Edwards, Karen and Egner, William and Ekani, Melanie N. and Elliott, Perry and Erber, Wendy N. and Erwood, Marie and Estiu, Maria C. and Evans, Dafydd Gareth and Evans, Gillian and Everington, Tamara and Eyries, Mélanie and Fassihi, Hiva and Favier, Remi and Findhammer, Jack and Fletcher, Debra and Flinter, Frances A. and Floto, R. Andres and Fowler, Tom and Fox, James and Frary, Amy J. and French, Courtney E. and Freson, Kathleen and Gall, Henning and Ganesan, Vijeya and Gattens, Michael and Geoghegan, Claire and Gerighty, Terence S. A. and Gharavi, Ali G. and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J. Simon R. and Gibson, Kate and Gilmour, Kimberly C. and Girerd, Barbara and Gleadall, Nicholas S. and Goddard, Sarah and Goldstein, David B. and Gomez, Keith and Gordins, Pavels and Gosal, David and Graham, Jodie and Grassi, Luigi and Greenhalgh, Lynn and Greinacher, Andreas and Gresele, Paolo and Griffiths, Philip and Grigoriadou, Sofia and Grocock, Russell J. and Grozeva, Detelina and Gurnell, Mark and Hackett, Scott and Hadinnapola, Charaka and Hague, William M. and Hague, Rosie and Hall, Matthew and Hanson, Helen L. and Haque, Eshika and Harkness, Kirsty and Harper, Andrew R. and Harris, Claire L. and Hart, Daniel and Hassan, Ahamad and Hayman, Grant and Henderson, Alex and Herwadkar, Archana and Hoffman, Jonathan and Holden, Simon and Horvath, Rita and Houlden, Henry and Houweling, Arjan C. and Howard, Luke S. G. E. and Hu, Fengyuan and Hudson, Gavin and Hughes, Joseph and Huissoon, Aarnoud P. and Humbert, Marc and Hunter, Sarah and Hurles, Matthew E. and Irving, Melita and Izatt, Louise and Johnson, Sally A. and Jolles, Stephen and Jolley, Jennifer and Josifova, Dragana and Jurkute, Neringa and Karten, Tim and Karten, Johannes and Kasanicki, Mary A. and Kazkaz, Hanadi and Kazmi, Rashid and Kelleher, Peter and Kelly, Anne M. and Kelsall, Wilf and Kempster, Carly and Kiely, David G. and Kingston, Nathalie and Klima, Robert and Koelling, Nils and Kostadima, Myrto and Kovacs, Gabor and Kreuzhuber, Roman and Kuijpers, Taco W. and Kumar, Ajith and Kumararatne, Dinakantha and Kurian, Manju A. and Lalloo, Fiona and Lambert, Michele and Lawrie, Allan and Layton, D. Mark and Lench, Nick and Lentaigne, Claire and Lester, Tracy and Linger, Rachel and Longhurst, Hilary and Lorenzo, Lorena E. and Louka, Eleni and Lyons, Paul A. and Machado, Rajiv D. and Ross, Robert V. MacKenzie and Madan, Bella and Maimaris, Jesmeen and Malka, Samantha and Mangles, Sarah and Marchbank, Kevin J. and Marks, Stephen and Marschall, Hanns-Ulrich and Marshall, Andrew G. and Martin, Jennifer and Mathias, Mary and Matthews, Emma and Maxwell, Heather and McAlinden, Paul and McCarthy, Mark I. and McKinney, Harriet and McMahon, Aoife and Meacham, Stuart and Mead, Adam J. and Castello, Ignacio Medina and Mehta, Sarju G. and Michaelides, Michel and Millar, Carolyn and Mohammed, Shehla N. and Moledina, Shahin and Montani, David and Moore, Anthony T. and Mozere, Monika and Muir, Keith W. and Nemeth, Andrea H. and Newman, William G. and Newnham, Michael and Noorani, Sadia and Nurden, Paquita and O'Sullivan, Jennifer and Obaji, Samya and Odhams, Chris and Okoli, Steven and Olschewski, Andrea and Olschewski, Horst and Ong, Kai Ren and Oram, S. Helen and Ouwehand, Willem H. and Palles, Claire and Papadia, Sofia and Park, Soo-Mi and Parry, David and Patel, Smita and Paterson, Joan and Peacock, Andrew and Pearce, Simon H. and Peden, John and Peerlinck, Kathelijne and Penkett, Christopher J. and Pepke-Zaba, Joanna and Petersen, Romina and Pilkington, Clarissa and Poole, Kenneth E. S. and Prathalingam, Radhika and Psaila, Bethan and Pyle, Angela and Quinton, Richard and Rahman, Shamima and Rao, Anupama and Raymond, F. Lucy and Rayner-Matthews, Paula J. and Rees, Christine and Renton, Tara and Rhodes, Christopher J. and Rice, Andrew S. C. and Richter, Alex and Robert, Leema and Rogers, Anthony and Rose, Sarah J. and Ross-Russell, Robert and Roughley, Catherine and Ruddy, Deborah M. and Sadeghi-Alavijeh, Omid and Samani, Nilesh J. and Samarghitean, Crina and Sargur, Ravishankar B. and Sarkany, Robert N. and Satchell, Simon and Savic, Sinisa and Sayer, John A. and Sayer, Genevieve and Scelsi, Laura and Schaefer, Andrew M. and Schulman, Sol and Scott, Richard and Scully, Marie and Searle, Claire and Seeger, Werner and Sen, Arjune and Sewell, W. A. Carrock and Seyres, Denis and Shah, Neil and Shapiro, Susan E. and Shaw, Adam C. and Short, Patrick J. and Sibson, Keith and Side, Lucy and Simeoni, Ilenia and Simpson, Michael A. and Sims, Matthew C. and Sivapalaratnam, Suthesh and Smedley, Damian and Smith, Katherine R. and Snape, Katie and Soranzo, Nicole and Soubrier, Florent and Southgate, Laura and Spasic-Boskovic, Olivera and Staines, Simon and Staples, Emily and Steward, Charles A. and Stirrups, Kathleen E. and Stuckey, Alex and Suntharalingam, Jay and Swietlik, Emilia M. and Syrris, Petros and Tait, R. Campbell and Talks, Kate and Tate, Katie and Taylor, John M. and Taylor, Jenny C. and Thaventhiran, James E. and Thomas, Ellen and Thomas, David and Thomas, Moira J. and Thomas, Patrick and Thomson, Kate and Threadgold, Glen and Tilly, Tobias and Tischkowitz, Marc and Titterton, Catherine and Todd, John A. and Toh, Cheng-Hock and Tolhuis, Bas and Tomlinson, Ian P. and Toshner, Mark and Traylor, Matthew and Treacy, Carmen and Treadaway, Paul and Trembath, Richard and Turek, Wojciech and Twiss, Philip and Vale, Tom and Geet, Chris Van and van Zuydam, Natalie and Vandekuilen, Maarten and Vandersteen, Anthony M. and Vazquez-Lopez, Marta and von Ziegenweidt, Julie and Vonk-Noordegraaf, Anton and Wagner, Annette and Waisfisz, Quinten and Walker, Suellen M. and Walker, Neil and Walter, Klaudia and Ware, James S. and Watt, Christopher and Wedderburn, Lucy and Wei, Wei and Welch, Steven B. and Wessels, Julie and Westbury, Sarah K. and Westwood, John-Paul and Wharton, John and Whitehorn, Deborah and Wilkie, Andrew O. M. and Wilson, Brian T. and Wong, Edwin K. S. and Wood, Nicholas W. and Wood, Yvette and Woods, Christopher Geoffrey and Woodward, Emma R. and Wort, Stephen J. and Worth, Austen and Wright, Michael and Yates, Katherine and Yong, Patrick F. K. and Young, Timothy and Yu, Ping and Yu-Wai-Man, Patrick and Zlamalova, Eliska}, biburl = {https://www.bibsonomy.org/bibtex/2cae8188dbd6f3012530f937b979f8612/dblp}, ee = {https://www.wikidata.org/entity/Q96683920}, interhash = {0c827133cc2035f89062be6284e7c0f6}, intrahash = {cae8188dbd6f3012530f937b979f8612}, journal = {Nat.}, keywords = {dblp}, number = 7814, pages = {96-102}, timestamp = {2024-04-09T07:28:47.000+0200}, title = {Whole-genome sequencing of patients with rare diseases in a national health system.}, url = {http://dblp.uni-trier.de/db/journals/nature/nature583.html#TurroAMGGSASFTS20}, volume = 583, year = 2020 }