NEMHESYS-European perspective on the implementation of next-generation sequencing into clinical diagnostics

[EN]NGS Establishment in Multidisciplinary Healthcare (NEMHESYS) is an Erasmus+ programme with the purpose of providing qualified staff with the essential technical and bioinformatic knowledge and skills on next-generation sequencing (NGS) to be able to carry out NGS studies and perform some of the...

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Autores: Serramito-Gómez, Inmaculada, M Clarke, Kathyrn, Rodríguez Vicente, Ana E., E McGimpsey, Julie, Abáigar Alvarado, María, Barranquero Díez, Carlos, Benito Sánchez, Rocío, Bullinger, Lars, I Mills, Ken, Hernández Rivas, Jesús María, Clarke, Kathryn M, Rodríguez-Vicente, Ana Eugenia, McGimpsey, Julie E, Díez, Carlos Barranquero, Mills, Ken I
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:dnet:gredos______::1b893061b57fd159941d49e8a717129e
Acceso en línea:http://hdl.handle.net/10366/171301
Access Level:acceso abierto
Palabra clave:NGS
Clinical Diagnostics
diagnóstico clínico
Descripción
Sumario:[EN]NGS Establishment in Multidisciplinary Healthcare (NEMHESYS) is an Erasmus+ programme with the purpose of providing qualified staff with the essential technical and bioinformatic knowledge and skills on next-generation sequencing (NGS) to be able to carry out NGS studies and perform some of the most common types of analyses. The clinical application of NGS has become easier with advancements in technologies. However, the investment needed to bring NGS into medical practice remains significant, with the scale of knowledge required being unprecedented at most hospitals. In addition, these novel technologies bring new challenges in translating NGS to clinical practice, at both technical and regulatory level, in terms of data management, interpretation of the results, and genetic counseling. All these aspects justify the consideration of what will be the precise role of NGS in diagnosis, risk assessment, response prediction, and treatment monitoring, today and tomorrow. Thus, to evaluate the implementation of NGS in European healthcare/research centers, a mapping survey was carried out, based on previous NGS mapping studies.

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