Genomic Quirks: The Search for Spelling Errors

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This is a book of real stories about the search for genomic spelling errors that have stark consequences – infants who pass away mysteriously, siblings with misplaced organs, a family with several instances of vision loss, sisters whose hearts fail in the prime of their youth, a boy whose blood can’t carry enough oxygen, a baby with cancer in the eye, a middle-aged patient battling cancer, and the author’s own color blindness. The search in each case proves to be a detective quest that connects the world of medical practice with that of molecular biology, traversing the world of computer algorithms along the way.