Role of bioinformatics in molecular medicine Book Section

  


Authors: Vanderbilt, C.; Middha, S.
Editors: Tafe, L. J.; Arcila, M. E.
Article/Chapter Title: Role of bioinformatics in molecular medicine
Abstract: The increased clinical adoption of next-generation sequencing (NGS) has led to widespread application of bioinformatics approaches for data analytics. Laboratories have largely adopted custom solution implementations of various analysis steps that are tied together and referred to as a bioinformatics workflow or pipeline. This chapter discusses the high-level approaches that have become the standard for clinical bioinformatics, including details on the file structure, conceptualizing the algorithmic processes, and regulatory considerations. We also discuss some of the tools that are becoming more commonly implemented and are likely to become standard components of many laboratories. © Springer Nature Switzerland AG 2020.
Keywords: bioinformatics; next-generation sequencing; molecular medicine; data analytics; algorithmic process; bioinformatics workflows; custom solutions; file structure; high-level approach; regulatory considerations; standard components
Book Title: Genomic Medicine: A Practical Guide
ISBN: 978-3-030-22921-4
Publisher: Springer  
Publication Place: Cham, Switzerland
Date Published: 2020-01-01
Start Page: 55
End Page: 68
Language: English
DOI: 10.1007/978-3-030-22922-1_4
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-105007387777&doi=10.1007%2f978-3-030-22922-1_4&partnerID=40&md5=2ecd3e9e7ccebc033334334eac36ce58
Notes: Book chapter: 4 -- Source: Scopus
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MSK Authors
  1. Maria Eugenia Arcila
    669 Arcila
  2. Sumit Middha
    84 Middha
  3. Chad Michael Vanderbilt
    139 Vanderbilt
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