Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
Discrepancies in reporting the CAG repeat lengths for Huntington's disease / Quarrell, Ow; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, Gb; European Huntington’s Disease Network Barth, European Huntington’s Disease Network. Barth K; Correia Guedes, L; Maria Finisterra, A; Bascuñana Garde, M; Bos, R; Ecker, D; Held, C; Koppers, K; Laurà, M; Martínez Descals, A; Mclean, T; Mestre, T; Minster, S; Monza, D; Townhill, J; Orth, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, Sp; Rialland, A; Røren, N; Šašinková, P; Cubillo, Pt; van Walsem, Mr; Witjes-Ané, Mn; Yudina, E; Zielonka, D; Zielonka, E; Zinzi, P; Bachoud-Lévi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, R; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Handley, Oj; Heiberg, A; Illmann, T; Landwehrmeyer, Gb; Levey, J; Nielsen, Je; Päivärinta, M; Roos, Ra; Rojo Sebastián, A; Tabrizi, Sj; Vandenberghe, W; Verellen-Dumoulin, C; Zaremba, J; Uhrova, T; Wahlström, J; Bonelli, Rm; Herranhof, B; Holl, A; Kapfhammer, Hp; Koppitz, M; Magnet, M; Otti, D; Painold, A; Reisinger, K; Scheibl, M; Hecht, K; Lilek, S; Müller, N; Schöggl, H; Ullah, J; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Buratti, L; Hametner, Em; Holas, C; Hussl, A; Mair, K; Poewe, W; Wolf, E; Zangerl, A; Braunwarth, Em; Ribaï, P; Flamez, A; Morez, V; de Raedt, S; Boogaerts, A; Vandenberghe, W; van Reijen, D; Klempíř, J; Kucharík, M; Roth, J; Nielsen, Je; Hjermind, Le; Jakobsen, O; Stokholm, J; Hasholt, L; Nørremølle, A; Sørensen, Sa; Hiivola, H; Martikainen, K; Tuuha, K; Peippo, M; Sipponen, M; Kosinski, Cm; Milkereit, E; Probst, D; Sass, C; Schiefer, J; Schlangen, C; Werner, Cj; Gelderblom, H; Priller, J; Prüss, H; Spruth, Ej; Andrich, J; Hoffmann, R; Kraus, Ph; Muth, S; Prehn, C; Saft, C; Salmen, S; Stamm, C; Steiner, T; Strassburger, K; Lange, H; Friedrich, A; Hunger, U; Löhle, M; Schmidt, S; Storch, A; Wolz, A; Wolz, M; Lambeck, J; Zucker, B; Boelmans, K; Ganos, C; Hidding, U; Lewerenz, J; Münchau, A; Orth, M; Schmalfeld, J; Stubbe, L; Zittel, S; Heinicke, W; Longinus, B; Uni, M; Bürk, K; Möller, Jc; Rissling, I; Peinemann, A; Städtler, M; Weindl, A; Bechtel, N; Beckmann, H; Bohlen, S; Hölzner, E; Lange, H; Reilmann, R; Rohm, S; Rumpf, S; Schepers, S; Beister, A; Dose, M; Hammer, K; Kieni, J; Leythaeuser, G; Marquard, R; Raab, T; Richter, S; Selimbegovic-Turkovic, A; Schrenk, C; Schuierer, M; Wiedemann, A; Barth, K; Buck, A; Connemann, J; Ecker, D; Eschenbach, C; Held, C; Landwehrmeyer, B; Lezius, F; Nepper, S; Niess, A; Orth, M; Süssmuth, S; Trautmann, S; Weydt, P; Cormio, C; Difruscolo, O; Sciruicchio, V; Serpino, C; de Tommaso, M; Capellari, S; Cortelli, P; Gallassi, R; Poda, R; Rizzo, G; Scaglione, C; Bertini, E; Ghelli, E; Ginestroni, A; Massaro, F; Mechi, C; Paganini, M; Piacentini, S; Pradella, S; Romoli, Am; Sorbi, S; Abbruzzese, G; Bandettini di Poggio, M; Di Maria, E; Ferrandes, G; Mandich, P; Marchese, R; Albanese, A; Di Bella, D; Di Donato, S; Gellera, C; Genitrini, S; Mariotti, C; Monza, D; Nanetti, L; Paridi, D; Soliveri, P; Tomasello, C; De Michele, G; Di Maio, L; Rinaldi, C; Valeria Russo, C; Salvatore, E; Tucci, T; Cannella, M; Codella, V; De Gregorio, F; De Nicola, N; Martino, T; Simonelli, M; Squitieri, F; Bentivoglio, Ar; Catalli, C; Di Giacopo, R; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Modoni, A; Piano, C; Piccininni, C; Quaranta, D; Romano, S; Soleti, F; Spadaro, M; Zinzi, P; van Hout, Ms; van Vugt, Jp; Marit de Weert, A; Bolwijn, Jj; Dekker, M; Leenders, Kl; van Oostrom, Jc; Bos, R; Dumas, Em; Jurgens, Ck; van den Bogaard, Sj; Roos, Ra; 't Hart, Ep; Witjes-Ané, Mn; Kremer, B; Verstappen, Cc; Heiberg, A; van Walsem, Mr; Aaserud, O; Wehus, R; Bjørgo, K; Fannemel, M; Gørvell, P; Koivisto, Sp; Retterstøl, L; Overland, T; Stokke, B; Bjørnevoll, I; Sando, Sb; Sitek, E; Slawek, J; Soltan, W; Boczarska-Jedynak, M; Jasinska-Myga, B; Opala, G; Kodowska-Duda, G; Banaszkiewicz, K; Szczudlik, A; Rudziñska, M; Wójcik, M; Dec, M; Krawczyk, M; Bryl, A; Ciesielska, A; Klimberg, A; Marcinkowski, J; Sempoowicz, J; Zielonka, D; Samara, H; Janik, P; Kalbarczyk, A; Kwiecinski, H; Jamrozik, Z; Antczak, J; Jachinska, K; Rakowicz, M; Richter, P; Ryglewicz, D; Witkowski, G; Zdzienicka, E; Zaremba, J; Suek, A; Krysa, W; Mestre, T; Guedes, L; Coelho, M; Mendes, T; Valadas, A; Ferreira, Jj; Cavaco, S; Damásio, J; Magalhães, M; Gago, M; Garrett, C; Guerra, Mr; Barrero, F; Morales, B; Cubo, E; Mariscal, N; Sánchez, J; Alonso-Frech, F; Rabasa Perez, M; Fenollar, M; García, R; García, R; Quiroga, Pp; Vázquez Rivera, S; Villanueva, C; Bascuñana, M; Fatás Ventura, M; García Ribas, G; García de Yébenes, J; López-Sendón Moreno, Jl; Cubillo, Pt; García Ruíz, Pj; Martínez-Descals, A; José Saiz Artiga, M; Sánchez, V; Noguera Perea, F; Lorenza, F; Torres, Mm; Reinante, G; Vivancos Moreau, L; Barbera, Ma; Badenes Guia, D; Hernanz, Lc; Catena, Jl; Rojo Sebastián, A; Ferrer, Pq; Tome Carruesco, G; Bas, J; Busquets, N; Calopa, M; Dalmau Elorza, M; Díez, C; López, A; Durán, S; Terol, S; Floriach Robert, M; Garzón Ruíz, B; González Casado, A; Haro Martínez, I; Viladrich, Cm; Pons i, Càrdenas R; Roca, E; Llesoy, Jr; Ruiz Idiago, Jm; Ruíz Vergara, M; Soriano García, S; Villa Riballo, A; Gorospe, A; Legarda, I; Arques, Pn; Torres Rodríguez, Mj; Vives, B; Gaston, I; Bosca, M; Burguera, Ja; Garcia, Ac; Pålhagen, Se; Paucar, M; Svenningsson, P; Walldén Reza-Soltani, T; Höglund, A; Sandström, B; Wahlström, J; Høsterey-Ugander, U; Fredlund, G; Constantinescu, R; Neleborn-Lingefjärd, L; Tedroff, J; Esmaeilzadeh, M; Winnberg, E; Burgunder, Jm; Burgunder, Y; Stebler, Y; Kaelin, A; Romero, I; Schüpbach, M; Zaugg, Sw; Jack, R; Matheson, K; Miedzybrodzka, Z; Rae, D; Simpson, S; Summers, F; Ure, A; Crooks, J; Curtis, A; de Souza, J; Rickards, H; Wright, J; Barker, Ra; Di Pietro, A; Fisher, K; Goodman, A; Hill, S; Kershaw, A; Mason, S; Paterson, N; Raymond, L; Bisson, J; Busse, M; Clenaghan, C; Ellison-Rose, L; Handley, O; Hunt, S; Townhill, J; Price, K; Rosser, A; Edwards, M; Hughes, T; Mcgill, M; Pearson, P; Porteous, M; Smith, P; Zeman, A; Causley, A; Harrower, T; Howcroft, D; Lambord, N; Rankin, J; Brockie, P; Foster, J; Johns, N; Mckenzie, S; Rothery, J; Thomas, G; Yates, S; Miller, J; Ritchie, S; Burrows, L; Fletcher, A; Harding, A; Laver, F; Silva, M; Thomson, A; Barnes, K; Chu, C; Hobson, E; Jamieson, S; Markova, I; Thomson, J; Toscano, J; Wild, S; Yardumian, P; Bourne, C; Clayton, C; Dipple, H; Clapton, J; Grant, J; Gross, D; Hallam, C; Middleton, J; Murch, A; Patino, D; Andrews, T; Dougherty, A; Kavalier, F; Golding, C; Lashwood, A; Robertson, D; Ruddy, D; Whaite, A; Patton, M; Peterson, M; Rose, S; Andrews, T; Bruno, S; Chu, E; Doherty, K; Golding, C; Henley, S; Lahiri, N; Novak, M; Patel, A; Read, J; Rosser, E; Say, M; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Callaghan, J; Craufurd, D; Fullam, R; Howard, L; Huson, S; Oughton, E; Partington-Jones, L; Snowden, J; Sollom, A; Stopford, C; Thompson, J; Trender-Gerhad, I; Verstraelen, N; Westmoreland, L; Nemeth, Ah; Suida, G; Harrison, D; Hughes, M; Parkinson, A; Soltysiak, B; Bandmann, O; Bradbury, A; Gill, P; Fairtlough, H; Fillingham, K; Foustanos, I; Peppa, N; Tidswell, K.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 20:(2012), pp. 20-26. [10.1038/ejhg.2011.136]
Discrepancies in reporting the CAG repeat lengths for Huntington's disease
Quarrell, Ow; Handley, O; O'Donovan, K; Dumoulin, C; Ramos Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, Gb; European Huntington’s Disease Network Barth, European Huntington’s Disease N.e.t.w.o.r.k. Barth K; Correia Guedes, L; Maria Finisterra, A; Bascuñana Garde, M; Bos, R; Ecker, D; Held, C; Koppers, K; Laurà, M; Martínez Descals, A; Mclean, T; Mestre, T; Minster, S; Monza, D; Townhill, J; Orth, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, Sp; Rialland, A; Røren, N; Šašinková, P; Cubillo, Pt; van Walsem, Mr; Witjes Ané, Mn; Yudina, E; Zielonka, D; Zielonka, E; Zinzi, P; Bachoud Lévi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, R; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Handley, Oj; Heiberg, A; Illmann, T; Landwehrmeyer, Gb; Levey, J; Nielsen, Je; Päivärinta, M; Roos, Ra; Rojo Sebastián, A; Tabrizi, Sj; Vandenberghe, W; Verellen Dumoulin, C; Zaremba, J; Uhrova, T; Wahlström, J; Bonelli, Rm; Herranhof, B; Holl, A; Kapfhammer, Hp; Koppitz, M; Magnet, M; Otti, D; Painold, A; Reisinger, K; Scheibl, M; Hecht, K; Lilek, S; Müller, N; Schöggl, H; Ullah, J; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Buratti, L; Hametner, Em; Holas, C; Hussl, A; Mair, K; Poewe, W; Wolf, E; Zangerl, A; Braunwarth, Em; Ribaï, P; Flamez, A; Morez, V; de Raedt, S; Boogaerts, A; Vandenberghe, W; van Reijen, D; Klempíř, J; Kucharík, M; Roth, J; Nielsen, Je; Hjermind, Le; Jakobsen, O; Stokholm, J; Hasholt, L; Nørremølle, A; Sørensen, Sa; Hiivola, H; Martikainen, K; Tuuha, K; Peippo, M; Sipponen, M; Kosinski, Cm; Milkereit, E; Probst, D; Sass, C; Schiefer, J; Schlangen, C; Werner, Cj; Gelderblom, H; Priller, J; Prüss, H; Spruth, Ej; Andrich, J; Hoffmann, R; Kraus, Ph; Muth, S; Prehn, C; Saft, C; Salmen, S; Stamm, C; Steiner, T; Strassburger, K; Lange, H; Friedrich, A; Hunger, U; Löhle, M; Schmidt, S; Storch, A; Wolz, A; Wolz, M; Lambeck, J; Zucker, B; Boelmans, K; Ganos, C; Hidding, U; Lewerenz, J; Münchau, A; Orth, M; Schmalfeld, J; Stubbe, L; Zittel, S; Heinicke, W; Longinus, B; Uni, M; Bürk, K; Möller, Jc; Rissling, I; Peinemann, A; Städtler, M; Weindl, A; Bechtel, N; Beckmann, H; Bohlen, S; Hölzner, E; Lange, H; Reilmann, R; Rohm, S; Rumpf, S; Schepers, S; Beister, A; Dose, M; Hammer, K; Kieni, J; Leythaeuser, G; Marquard, R; Raab, T; Richter, S; Selimbegovic Turkovic, A; Schrenk, C; Schuierer, M; Wiedemann, A; Barth, K; Buck, A; Connemann, J; Ecker, D; Eschenbach, C; Held, C; Landwehrmeyer, B; Lezius, F; Nepper, S; Niess, A; Orth, M; Süssmuth, S; Trautmann, S; Weydt, P; Cormio, C; Difruscolo, O; Sciruicchio, V; Serpino, C; de Tommaso, M; Capellari, S; Cortelli, P; Gallassi, R; Poda, R; Rizzo, G; Scaglione, C; Bertini, E; Ghelli, E; Ginestroni, A; Massaro, F; Mechi, C; PAGANINI, MARCO ;PIACENTINI, SILVIA ;Pradella, S; Romoli, Am; SORBI, SANDRO ;Abbruzzese, G; Bandettini di Poggio, M; Di Maria, E; Ferrandes, G; Mandich, P; Marchese, R; Albanese, A; Di Bella, D; Di Donato, S; Gellera, C; Genitrini, S; Mariotti, C; Monza, D; Nanetti, L; Paridi, D; Soliveri, P; Tomasello, C; De Michele, G; Di Maio, L; Rinaldi, C; Valeria Russo, C; Salvatore, E; Tucci, T; Cannella, M; Codella, V; De Gregorio, F; De Nicola, N; Martino, T; Simonelli, M; Squitieri, F; Bentivoglio, Ar; Catalli, C; Di Giacopo, R; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Modoni, A; Piano, C; Piccininni, C; Quaranta, D; Romano, S; Soleti, F; Spadaro, M; Zinzi, P; van Hout, Ms; van Vugt, Jp; Marit de Weert, A; Bolwijn, Jj; Dekker, M; Leenders, Kl; van Oostrom, Jc; Bos, R; Dumas, Em; Jurgens, Ck; van den Bogaard, Sj; Roos, Ra; 't Hart, Ep; Witjes Ané, Mn; Kremer, B; Verstappen, Cc; Heiberg, A; van Walsem, Mr; Aaserud, O; Wehus, R; Bjørgo, K; Fannemel, M; Gørvell, P; Koivisto, Sp; Retterstøl, L; Overland, T; Stokke, B; Bjørnevoll, I; Sando, Sb; Sitek, E; Slawek, J; Soltan, W; Boczarska Jedynak, M; Jasinska Myga, B; Opala, G; Kodowska Duda, G; Banaszkiewicz, K; Szczudlik, A; Rudziñska, M; Wójcik, M; Dec, M; Krawczyk, M; Bryl, A; Ciesielska, A; Klimberg, A; Marcinkowski, J; Sempoowicz, J; Zielonka, D; Samara, H; Janik, P; Kalbarczyk, A; Kwiecinski, H; Jamrozik, Z; Antczak, J; Jachinska, K; Rakowicz, M; Richter, P; Ryglewicz, D; Witkowski, G; Zdzienicka, E; Zaremba, J; Suek, A; Krysa, W; Mestre, T; Guedes, L; Coelho, M; Mendes, T; Valadas, A; Ferreira, Jj; Cavaco, S; Damásio, J; Magalhães, M; Gago, M; Garrett, C; Guerra, Mr; Barrero, F; Morales, B; Cubo, E; Mariscal, N; Sánchez, J; Alonso Frech, F; Rabasa Perez, M; Fenollar, M; García, R; García, R; Quiroga, Pp; Vázquez Rivera, S; Villanueva, C; Bascuñana, M; Fatás Ventura, M; García Ribas, G; García de Yébenes, J; López Sendón Moreno, Jl; Cubillo, Pt; García Ruíz, Pj; Martínez Descals, A; José Saiz Artiga, M; Sánchez, V; Noguera Perea, F; Lorenza, F; Torres, Mm; Reinante, G; Vivancos Moreau, L; Barbera, Ma; Badenes Guia, D; Hernanz, Lc; Catena, Jl; Rojo Sebastián, A; Ferrer, Pq; Tome Carruesco, G; Bas, J; Busquets, N; Calopa, M; Dalmau Elorza, M; Díez, C; López, A; Durán, S; Terol, S; Floriach Robert, M; Garzón Ruíz, B; González Casado, A; Haro Martínez, I; Viladrich, Cm; Pons i, Càrdenas R; Roca, E; Llesoy, Jr; Ruiz Idiago, Jm; Ruíz Vergara, M; Soriano García, S; Villa Riballo, A; Gorospe, A; Legarda, I; Arques, Pn; Torres Rodríguez, Mj; Vives, B; Gaston, I; Bosca, M; Burguera, Ja; Garcia, Ac; Pålhagen, Se; Paucar, M; Svenningsson, P; Walldén Reza Soltani, T; Höglund, A; Sandström, B; Wahlström, J; Høsterey Ugander, U; Fredlund, G; Constantinescu, R; Neleborn Lingefjärd, L; Tedroff, J; Esmaeilzadeh, M; Winnberg, E; Burgunder, Jm; Burgunder, Y; Stebler, Y; Kaelin, A; Romero, I; Schüpbach, M; Zaugg, Sw; Jack, R; Matheson, K; Miedzybrodzka, Z; Rae, D; Simpson, S; Summers, F; Ure, A; Crooks, J; Curtis, A; de Souza, J; Rickards, H; Wright, J; Barker, Ra; Di Pietro, A; Fisher, K; Goodman, A; Hill, S; Kershaw, A; Mason, S; Paterson, N; Raymond, L; Bisson, J; Busse, M; Clenaghan, C; Ellison Rose, L; Handley, O; Hunt, S; Townhill, J; Price, K; Rosser, A; Edwards, M; Hughes, T; Mcgill, M; Pearson, P; Porteous, M; Smith, P; Zeman, A; Causley, A; Harrower, T; Howcroft, D; Lambord, N; Rankin, J; Brockie, P; Foster, J; Johns, N; Mckenzie, S; Rothery, J; Thomas, G; Yates, S; Miller, J; Ritchie, S; Burrows, L; Fletcher, A; Harding, A; Laver, F; Silva, M; Thomson, A; Barnes, K; Chu, C; Hobson, E; Jamieson, S; Markova, I; Thomson, J; Toscano, J; Wild, S; Yardumian, P; Bourne, C; Clayton, C; Dipple, H; Clapton, J; Grant, J; Gross, D; Hallam, C; Middleton, J; Murch, A; Patino, D; Andrews, T; Dougherty, A; Kavalier, F; Golding, C; Lashwood, A; Robertson, D; Ruddy, D; Whaite, A; Patton, M; Peterson, M; Rose, S; Andrews, T; Bruno, S; Chu, E; Doherty, K; Golding, C; Henley, S; Lahiri, N; Novak, M; Patel, A; Read, J; Rosser, E; Say, M; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Callaghan, J; Craufurd, D; Fullam, R; Howard, L; Huson, S; Oughton, E; Partington Jones, L; Snowden, J; Sollom, A; Stopford, C; Thompson, J; Trender Gerhad, I; Verstraelen, N; Westmoreland, L; Nemeth, Ah; Suida, G; Harrison, D; Hughes, M; Parkinson, A; Soltysiak, B; Bandmann, O; Bradbury, A; Gill, P; Fairtlough, H; Fillingham, K; Foustanos, I; Peppa, N; Tidswell, K.
2012
Abstract
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
Tutti gli autori
Quarrell, Ow; Handley, O; O'Donovan, K; Dumoulin, C; Ramos-Arroyo, M; Biunno, I; Bauer, P; Kline, M; Landwehrmeyer, Gb; European Huntington’s Disease Network Barth, European Huntington’s Disease Network. Barth K; Correia Guedes, L; Maria Finisterra, A; Bascuñana Garde, M; Bos, R; Ecker, D; Held, C; Koppers, K; Laurà, M; Martínez Descals, A; Mclean, T; Mestre, T; Minster, S; Monza, D; Townhill, J; Orth, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, Sp; Rialland, A; Røren, N; Šašinková, P; Cubillo, Pt; van Walsem, Mr; Witjes-Ané, Mn; Yudina, E; Zielonka, D; Zielonka, E; Zinzi, P; Bachoud-Lévi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, R; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Handley, Oj; Heiberg, A; Illmann, T; Landwehrmeyer, Gb; Levey, J; Nielsen, Je; Päivärinta, M; Roos, Ra; Rojo Sebastián, A; Tabrizi, Sj; Vandenberghe, W; Verellen-Dumoulin, C; Zaremba, J; Uhrova, T; Wahlström, J; Bonelli, Rm; Herranhof, B; Holl, A; Kapfhammer, Hp; Koppitz, M; Magnet, M; Otti, D; Painold, A; Reisinger, K; Scheibl, M; Hecht, K; Lilek, S; Müller, N; Schöggl, H; Ullah, J; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Buratti, L; Hametner, Em; Holas, C; Hussl, A; 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Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande. La presente simulazione è stata realizzata sulla base delle specifiche raccolte sul tavolo ER del Focus Group IRIS coordinato dall’Università di Modena e Reggio Emilia e delle regole riportate nel DM 589/2018 e allegata Tabella A. Cineca, l’Università di Modena e Reggio Emilia e il Focus Group IRIS non si assumono alcuna responsabilità in merito all’uso che il diretto interessato o terzi faranno della simulazione. Si specifica inoltre che la simulazione contiene calcoli effettuati con dati e algoritmi di pubblico dominio e deve quindi essere considerata come un mero ausilio al calcolo svolgibile manualmente o con strumenti equivalenti.