Methods and compositions for identifying disease genes using nonsense-mediated decay inhibition

The invention provides compositions and methods for diagnostic and therapeutic applications of gene identification by nonsense-mediated decay inhibition (GINI). The approach allows the rapid identification of the genes and genetic lesions responsible for monogenic as well as polygenic human genetic...

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Hauptverfasser: JOSHUA MENDELL, HARRY C. DIETZ, ERICK NOENSIE
Format: Patent
Sprache:eng
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Beschreibung
Zusammenfassung:The invention provides compositions and methods for diagnostic and therapeutic applications of gene identification by nonsense-mediated decay inhibition (GINI). The approach allows the rapid identification of the genes and genetic lesions responsible for monogenic as well as polygenic human genetic disorders. In addition, the approach supports diagnostic typing and therapeutic selection for human cancers and other disorders arising as a result of gene mutations.