The main challenges that remain in applying high-throughput sequencing to clinical diagnostics

Michael Loeffelholz, Yuriy Fofanov

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Over the last 10 years, the quality, price and availability of high-throughput sequencing instruments have improved to the point that this technology may be close to becoming a routine tool in the diagnostic microbiology laboratory. Two groups of challenges, however, have to be resolved in order to move this powerful research technology into routine use in the clinical microbiology laboratory. The computational/bioinformatics challenges include data storage cost and privacy concerns, requiring analysis to be performed without access to cloud storage or expensive computational infrastructure. The logistical challenges include interpretation of complex results and acceptance and understanding of the advantages and limitations of this technology by the medical community. This article focuses on the approaches to address these challenges, such as file formats, algorithms, data collection, reporting and good laboratory practices.

Original languageEnglish (US)
Pages (from-to)1405-1408
Number of pages4
JournalExpert Review of Molecular Diagnostics
Issue number11
StatePublished - Nov 2 2015


  • clinical microbiology
  • high-throughput sequencing
  • novel algorithms
  • pathogen detection
  • point-of-care diagnostics

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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