Introduction: The review highlights the impact of next-generation sequencing (NGS) on genomic medicine and the consequences of the progression from a single-gene panel technology to a whole exome sequencing approach. Areas covered: We brought together literature-based evidences, personal unpublished data and clinical experience to provide a critical overview of the impact of NGS on our daily clinical practice. Expert commentary: NGS has changed the role of clinical geneticist and has broadened the view accomplishing a transition from a monogenic Mendelian perspective to an oligogenic approach to disorders. Thus, it is a compelling new expertise which combines clinical evaluation with big omics data interpretation and moves forward to phenotype re-evaluation in light of data analysis. We introduced the term, ‘exotyping’, to highlight this holistic approach. Further, the review discusses the impact that the combination of genetic reprogramming and transcriptome analysis will have on the discovery of evidence-based therapies. © 2016 Informa UK Limited, trading as Taylor & Francis Group.

Pinto, A.M., Ariani, F., Bianciardi, L., Daga, S., Renieri, A. (2016). Exploiting the potential of next-generation sequencing in genomic medicine. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 16(9), 1037-1047 [10.1080/14737159.2016.1224181].

Exploiting the potential of next-generation sequencing in genomic medicine

PINTO, ANNA MARIA;ARIANI, FRANCESCA;BIANCIARDI, LAURA;DAGA, SERGIO;RENIERI, ALESSANDRA
2016-01-01

Abstract

Introduction: The review highlights the impact of next-generation sequencing (NGS) on genomic medicine and the consequences of the progression from a single-gene panel technology to a whole exome sequencing approach. Areas covered: We brought together literature-based evidences, personal unpublished data and clinical experience to provide a critical overview of the impact of NGS on our daily clinical practice. Expert commentary: NGS has changed the role of clinical geneticist and has broadened the view accomplishing a transition from a monogenic Mendelian perspective to an oligogenic approach to disorders. Thus, it is a compelling new expertise which combines clinical evaluation with big omics data interpretation and moves forward to phenotype re-evaluation in light of data analysis. We introduced the term, ‘exotyping’, to highlight this holistic approach. Further, the review discusses the impact that the combination of genetic reprogramming and transcriptome analysis will have on the discovery of evidence-based therapies. © 2016 Informa UK Limited, trading as Taylor & Francis Group.
2016
Pinto, A.M., Ariani, F., Bianciardi, L., Daga, S., Renieri, A. (2016). Exploiting the potential of next-generation sequencing in genomic medicine. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 16(9), 1037-1047 [10.1080/14737159.2016.1224181].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/996027