| Autor: |
Carlene Campbell, Nancy N. Breen, Silvia Tortorelli, Yin-Hsiu Chien, Carmen Delgado Pecellin, Kathy Tomashitis, Sahar A. Sharaf, Olaf Bodamer, Claudia Carducci, Veronica Wiley, Phaidra Browning, José María Egea-Mellado, Gregg Marquardt, Daisy E. Castiñeiras Ramos, Hugo Rocha, Hyung-Doo Park, Francesca Teofoli, Osama Y. Al-Dirbashi, Jon J. Jonsson, Michael S. Watson, Gary Hoffman, Petr Chrastina, Elisabetta Pasquini, Inmaculada González-Gallego, Mark McCann, David Cheillan, Jonessy Quesada, Sandrine Marie, Christine D. McKeever, Christine Vianey-Saban, Kimiyo Raymond, Adrienne Manning, Raquel Yahyaoui Macías, Patrick V. Hopkins, Dimitar Gavrilov, Stephanie K. Mayfield Gibson, James Lim, Leifur Franzson, Mark Dymerski, S. Graham Caldwell, Barry Lewis, Yannis L. Loukas, Soo-Youn Lee, Italo Antonozzi, Dietrich Matern, Marie-Françoise Vincent, William Hoffman, Stanton L. Berberich, Marta Camilot, James R. Bonham, Piero Rinaldo, Ákos Baráth, Mahera Abdulrahman, Ubaldo Caruso, Graham Sinclair, Aida Lemes, Tijen Tanyalcin, Catharine John, Eszter Karg, François Boemer, Emanuela Scolamiero, David M.S. McHugh, Shawn M. Manos, Pranesh Chakraborty, Inderneel Sahai, Julie McClure, David Ludvigson, Coleman T. Turgeon, Giuseppe Giordano, Petr Hornik, Thomas A. Childs, Mouseline Torquado Domingos, Amy Hietala, Dianne M. Frazier, Emily H. Smith, Sherlykutty Sunny, Roland Schoos, Inmaculada Rueda Fernández, Georgios S.A. Zacharioudakis, Lawrence Greed, Darrin W. Sevier, M. Downing, Vagelis Papakonstantinou, Yannis Dotsikas, Issam Khneisser, Khalid Al-Thihli, Alejandra Reuben, Tim Davis, Roger B. Eaton, Iman Atef Mandour, Mark J. Magera, Barbara G. Lesko, Michela Cassanello, Bert Elvers, Fred Lorey, Mary Seeterlin, Wuh-Liang Hwu, Jose Angel Cocho de Juan, Bridget Wilcken, Mark A. Morrissey, Cecilia Queijo, Robert Currier, Maria Sierra García Valdecasas Bermejo, Mei W. Baker, Consuelo Ruiz, Margretta R. Seashore, Colleen K. Peterson, Adrya Stembridge, Rosario Torres, Yuri Cleverthon Sica, David E. Sesser, Kimberley Turner, Margherita Ruoppolo, Devin Oglesbee, Cory Porter, Fizza Gulamali-Majid, Dianne Webster, Sharon A. Willis, Bonifacio Dy, Iole Maria Di Gangi, Jasmin Torres, Monique G. de Sain–Van der Velden, Giancarlo la Marca, Eleanor Stanley, Detlef Knoll, Laura Vilarinho, Roberto T. Zori |
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| Zdroj: |
Università degli studi di Firenze-IRIS |
| Popis: |
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 half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events. Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%. © 2012 American College of Medical Genetics and Genomics. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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