Despite a training in clinical genetics, Hugh Rienhoff didn't know what was wrong with his daughter. So, as he tells Brendan Maher, he set about finding out.
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See Editorial, page 755 . Brendan Maher is a features editor at Nature.
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Maher, B. Personal genomics: His daughter's DNA. Nature 449, 773–776 (2007). https://doi.org/10.1038/449773a