The $1,000 genome, the $100,000 analysis?

@inproceedings{Mardis2010TheG,
  title={The \$1,000 genome, the \$100,000 analysis?},
  author={Elaine R. Mardis},
  booktitle={Genome Medicine},
  year={2010}
}
Having recently attended the Personal Genomes meeting at Cold Spring Harbor Laboratories (I was an organizer this year), I was struck by the number of talks that described the use of whole-genome sequencing and analysis to reveal the genetic basis of disease in patients. These patients included a child with irritable bowel disease, a child with severe combined immunodeficiency, two siblings affected with Miller syndrome, and several with cancers of different types. Although each presenter… CONTINUE READING

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