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Novel genomic techniques open new avenues in the analysis of monogenic disorders.

Human mutation - 1 Feb 2011

Kuhlenbäumer Gregor, Hullmann Julia, Appenzeller Silke

Abstract excerpt

The molecular genetic cause of over 3,000 monogenic disorders is currently unknown. This review discusses how novel genomic techniques like Next-Generation DNA Sequencing (NGS) and genotyping arrays open new avenues in the elucidation of genetic defects causing monogenic disorders. They will not only speed up disease gene identification but will enable us to systematically tackle previously intractable monogenic...

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PMID: 21280146
DOI: 10.1002/humu.21400

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