作者
Gregg Marquardt, Robert Currier, David McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H Smith, Silvia Tortorelli, Coleman T Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence C Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie-Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al-Thihli, Graham Sinclair, Osama Y Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Hornik, Iman Atef Mandour, Atty Sharaf, Sahar Abdel, Olaf Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey-Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis L Loukas, Vagelis Papakonstantinou, Georgios SA Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jon J Jonsson, Nancy N Breen, Barbara G Lesko, Stanton L Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, Italo Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn M Manos, Colleen K Peterson, Stephanie K Mayfield Gibson, Darrin W Sevier, Soo-Youn Lee, Hyung-Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S Watson, Roger B Eaton, Inderneel Sahai, Consuelo Ruiz, Rosario Torres, Mary A Seeterlin, Eleanor L Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V Hopkins, Monique de Sain–Van der Velden, Bert Elvers, Mark A Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M Frazier, Julie D McClure, David E Sesser, Sharon A Willis, Hugo Rocha, Laura Vilarinho, Catharine John, James Lim, S Graham Caldwell, Kathy Tomashitis, Daisy E Castiñeiras Ramos, Cocho de Juan, Jose Angel, Inmaculada Rueda Fernández, Raquel Yahyaoui Macías, José María Egea-Mellado, Inmaculada González-Gallego, Carmen Delgado Pecellin, García-Valdecasas Bermejo, Maria Sierra, Yin-Hsiu Chien, Wuh-Liang Hwu, Thomas Childs, Christine D McKeever, Tijen Tanyalcin, Mahera Abdulrahman, Cecilia Queijo, Aída Lemes, Tim Davis, William Hoffman, Mei Baker, Gary L Hoffman
发表日期
2012/7
期刊
Genetics in medicine
卷号
14
期号
7
页码范围
648-655
出版商
Nature Publishing Group
简介
Purpose:
To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.
Methods:
A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.
Results:
Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least …
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G Marquardt, R Currier, D McHugh, D Gavrilov… - Genetics in medicine, 2012