Critical role of bioinformatics in translating huge amounts of next-generation sequencing data into personalized medicine

Sci China Life Sci. 2013 Feb;56(2):110-8. doi: 10.1007/s11427-013-4439-7. Epub 2013 Feb 8.

Abstract

Realizing personalized medicine requires integrating diverse data types with bioinformatics. The most vital data are genomic information for individuals that are from advanced next-generation sequencing (NGS) technologies at present. The technologies continue to advance in terms of both decreasing cost and sequencing speed with concomitant increase in the amount and complexity of the data. The prodigious data together with the requisite computational pipelines for data analysis and interpretation are stressors to IT infrastructure and the scientists conducting the work alike. Bioinformatics is increasingly becoming the rate-limiting step with numerous challenges to be overcome for translating NGS data for personalized medicine. We review some key bioinformatics tasks, issues, and challenges in contexts of IT requirements, data quality, analysis tools and pipelines, and validation of biomarkers.

Publication types

  • Review

MeSH terms

  • Computational Biology / methods*
  • Data Interpretation, Statistical
  • Database Management Systems
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / instrumentation
  • High-Throughput Nucleotide Sequencing / statistics & numerical data*
  • Humans
  • Information Dissemination
  • Internet
  • Precision Medicine / statistics & numerical data*
  • Sequence Analysis, DNA / statistics & numerical data
  • Software