Next-Generation Sequencing Informatics: Challenges and Strategies for Implementation in a Clinical Environment

Archives of Pathology & Laboratory Medicine
Somak RoyLiron Pantanowitz

Abstract

-Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory medicine, with a deep and direct impact on patient care. Although it empowers clinical laboratories with unprecedented genomic sequencing capability, NGS has brought along obvious and obtrusive informatics challenges. Bioinformatics and clinical informatics are separate disciplines with typically a small degree of overlap, but they have been brought together by the enthusiastic adoption of NGS in clinical laboratories. The result has been a collaborative environment for the development of novel informatics solutions. Sustaining NGS-based testing in a regulated clinical environment requires institutional support to build and maintain a practical, robust, scalable, secure, and cost-effective informatics infrastructure. -To discuss the novel NGS informatics challenges facing pathology laboratories today and offer solutions and future developments to address these obstacles. -The published literature pertaining to NGS informatics was reviewed. The coauthors, experts in the fields of molecular pathology, precision medicine, and pathology informatics, also contributed their experiences. -The boundary between bioinformatics and clinical informatics has s...Continue Reading

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Citations

Jul 30, 2016·Expert Review of Molecular Diagnostics·Somak RoyLiron Pantanowitz
Jun 14, 2017·Cancer Cytopathology·Matthew G Hanna, Liron Pantanowitz
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