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Human genetics: Genomes on prescription

Nature volume 478, pages 22–24 (2011)Cite this article

Subjects

The first clinical uses of whole-genome sequencing show just how challenging it can be.

The first thing Debbie Jorde noticed about her newborn daughter was that her arms were bent at unnatural angles. She had other problems, too: a cleft palate, eight fingers, eight toes and no lower eyelids. She would eventually be diagnosed with Miller syndrome, a disease so rare that doctors have long assumed that each case arises through spontaneous mutation, rather than being passed down through families. Doctors told Jorde that her chances of having a second child with the syndrome were less than one in a million.

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Authors
  1. Brendan Maher
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See News p.17 & p.19

Brendan Maher is a features editor for Nature.

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The Human Genome at Ten

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Debbie Jorde's blog

Medical College of Wisconsin Human and Molecular Genetics Center

ClinVar

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Maher, B. Human genetics: Genomes on prescription. Nature 478, 22–24 (2011). https://doi.org/10.1038/478022a

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