Multicenter Next-Generation Sequencing Studies Between Theory and Practice

In the age of personalized medicine, genetic testing by means of targeted sequencing has taken a key role. However, when comparing different sets of targeted sequencing data, these are often characterized by a considerable lack of harmonization. Laboratories follow their own best practices, analyzing their own target regions. The question on how to best integrate data from different sites remains unanswered. Studying the example of myelodysplastic syndrome (MDS), we analyzed 11 targeted sequencing sets, collected from six different centers (n = 831).

Source: Journal of Molecular Diagnostics - December 22, 2020 Category: Pathology Authors: Sarah Sandmann, Aniek O. de Graaf, Magnus Tobiasson, Olivier Kosmider, Mar ía Abáigar, Emmanuelle Clappier, Anna Gallì, Bert A. van der Reijden, Luca Malcovati, Pierre Fenaux, María Díez-Campelo, Michaela Fontenay, Eva Hellström-Lindberg, Joop H. Ja Tags: Regular article Source Type: research