Whole-exome and whole-genome sequencing in the molecular diagnostic laboratory
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Publisher
Elsevier
Reference59 articles.
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2. Exome sequencing identifies the cause of a Mendelian disorder;Ng;Nat Genet,2010
3. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy;Lupski;N Engl J Med,2010
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5. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation;Clark;Sci Transl Med,2019
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