Monday, 28 September 2015

PubMed Highlights: In a recent special issue Science discuss recent advances in human genomics, their impact for human health and future perspectives

Science Magazine has just published a special issue on the recent advances in genomics, as well as the promise and challenges of the new technologies for human health. The special issue is composed by a set of reviews discussing the main topics in the field:

  • the use of new sequencing technologies for the identification of genetic mutations causing human disease and the improvements in our ability to interpret the consequences of such mutations.
  • the state of the art in somatic variant detection and the impact of the new technology on cancer research
  • the genetic and genomics of psychiatric diseases, reporting the difficulties in understanding the interplay of inherited genetics and spontaneous mutations in complex diseases
  • the impact on mitochondrial disease research

In addition there are some commentary on ethical and privacy related challenges emerging from the wide adoption of the new genomics technologies and their use for preimplantation screens and human health care. Finally, there is a report on the recent effort from NIH to deliver personalized medicine.

A must read issue!

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