New High-Tech Screen Takes Carrier Testing to the Next Level

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Science  14 Jan 2011:
Vol. 331, Issue 6014, pp. 130-131
DOI: 10.1126/science.331.6014.130

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Bioinformaticists describe in a paper published online this week by Science Translational Medicine what appears to be the broadest application of "next-generation sequencing" to a medical problem. They used technology that "sprays the genome with sequences" to look for mutations in the genes behind 448 childhood recessive diseases. Carrier tests currently offered all hunt for previously identified genetic mutations for various diseases, working from a list that cobbles together what's been described in the scientific literature, which captures many carriers, but not all of them. The new test looks for any mutation in a gene involved in one of these rare diseases.

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