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Nationwide Laboratory Network for AML Cross-Validated NGS Studies: Results from a Real-Life Cohort of the Pethema Group

Claudia Sargas,Rosa Ayala,Carmen Chillon,Maria Jose Larrayoz,Estrella Carrillo,Cristina Bilbao,Manuel Yebenes,Marta Llop,Inmaculada Rapado,Ramon Garcia-Sanz,Iria Vazquez,Elena Soria,Santiago Sanchez-Sosa,Kamila Janusz,Carmen Botella,Josefina Serrano,David Martinez-Cuadron,Juan-Miguel Bergua,Maria Luz Amigo,Pilar Martinez Sanchez, Mar Tormo, Teresa Bernal, Pilar Herrera-Puente, Raimundo Garcia-Boyero, Lorenzo Algarra, Maria Jose Sayas, Lisette Costilla-Barriga, Esther Perez-Santolalla, Inmaculada Marchante, Esperanza Lavilla-Rubira, Victor Noriega, Juan Manuel Alonso Dominguez, Miguel A. Sanz, Joaquin Sanchez, Maria Teresa Gomez-Casares, Jose A. Perez-Simon, Maria Jose Calasanz, Marcos Gonzalez, Joaquin Martinez-Lopez, Eva Barragan, Pau Montesinos

Blood(2021)

Cited 0|Views26
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Abstract
Next-Generation Sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. To overcome this challenge, the PETHEMA group established a nationwide network of 7 reference laboratories aimed to deliver molecular results to the clinics. We report the technical cross-validation results for NGS and clinical validation in 2960 AML samples.
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