Informatics and clinical genome sequencing: opening the black box

Genet Med. 2013 Mar;15(3):165-71. doi: 10.1038/gim.2012.116. Epub 2012 Sep 13.


Adoption of whole-genome sequencing as a routine biomedical tool is dependent not only on the availability of new high-throughput sequencing technologies, but also on the concomitant development of methods and tools for data collection, analysis, and interpretation. It would also be enormously facilitated by the development of decision support systems for clinicians and consideration of how such information can best be incorporated into care pathways. Here we present an overview of the data analysis and interpretation pipeline, the wider informatics needs, and some of the relevant ethical and legal issues.

Publication types

  • Review

MeSH terms

  • Computational Biology / methods
  • Confidentiality
  • Decision Support Techniques
  • Genome, Human*
  • Humans
  • Information Dissemination
  • Medical Informatics*
  • Molecular Sequence Annotation
  • Physicians
  • Software