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Volume 12 Supplement 1

Beyond the Genome 2011

Next-generation clinical sequencing in a children’s hospital

Next-generation sequencing and analysis tools are reaching the mature stage at which mentioning their usefulness for clinical testing is not an oxymoron. Indeed, next-generation clinical sequencing has the potential to transform children’s health care, because inherited illnesses account for much of the childhood disease burden. I will discuss the first year of the integration of genomic medicine for Mendelian diseases at Children’s Mercy Hospital.

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Kingsmore, S. Next-generation clinical sequencing in a children’s hospital. Genome Biol 12, I9 (2011).

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  • Health Care
  • Analysis Tool
  • Disease Burden
  • Clinical Testing
  • Mature Stage