Over the past 10 years next generation sequencing (NGS) approaches deciphered a large number of genomes from a wide variety of tumor types. However, despite most relevant findings, this technology has not yet been implemented into standard diagnostic workflows. Broad access to NGS technology is still limited, sequencing/analysis times exceed clinically relevant timeframes and despite huge cuts, costs remain significant. We proposed a custom-tailored gene panel, which focuses on a selected number of relevant genes and developed a clinically oriented NGS targeted sequencing approach for the molecular characterization of Multiple Myeloma (MM) tumors, allowing the description of the tumor genetic heterogeneity and its changes under selective pressure of antitumor therapy, in a more cost effective and faster turnaround timeframe.

Protocol for M3P: A comprehensive and clinical oriented targeted sequencing panel for routine molecular analysis in multiple myeloma / S. Barrio, M.C. DA VIA', L. Bruins, T. Stuhmer, T. Steinbrunn, M. Bittrich, H. Einsele, A.K. Stewart, E. Braggio, K.M. Kortum (METHODS IN MOLECULAR BIOLOGY). - In: Multiple Myeloma / [a cura di] C. Heuck, N. Weinhold. - [s.l] : Humana Press, 2018. - ISBN 978-1-4939-7864-9. - pp. 117-128 [10.1007/978-1-4939-7865-6_8]

Protocol for M3P: A comprehensive and clinical oriented targeted sequencing panel for routine molecular analysis in multiple myeloma

M.C. DA VIA'
Secondo
;
2018

Abstract

Over the past 10 years next generation sequencing (NGS) approaches deciphered a large number of genomes from a wide variety of tumor types. However, despite most relevant findings, this technology has not yet been implemented into standard diagnostic workflows. Broad access to NGS technology is still limited, sequencing/analysis times exceed clinically relevant timeframes and despite huge cuts, costs remain significant. We proposed a custom-tailored gene panel, which focuses on a selected number of relevant genes and developed a clinically oriented NGS targeted sequencing approach for the molecular characterization of Multiple Myeloma (MM) tumors, allowing the description of the tumor genetic heterogeneity and its changes under selective pressure of antitumor therapy, in a more cost effective and faster turnaround timeframe.
Multiple myeloma; Next generation sequencing; Standard diagnostic workflow; Targeted sequencing panel
Settore MED/15 - Malattie del Sangue
2018
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/950377
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