News of the WeekHuman Genetics

Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases

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Science  12 Nov 2010:
Vol. 330, Issue 6006, pp. 903
DOI: 10.1126/science.330.6006.903

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A flurry of reports this year on new genes for Mendelian disorders—rare diseases caused by a defect in a single gene—takes advantage of cheap, next-generation DNA-sequencing technologies that make it possible, for a few thousand dollars, to sequence the 1% of the genome that codes for proteins, known as exons. This so-called exome sequencing has reinvigorated the field.