Method for identifying mutations in coding and non-coding DNA

Annotation of the completed human genome has demonstrated that about 1.5 % encodes protein. About twice (roughly 3.5%) falls within non-coding sequence and is suggested to be functional based on extensive (>50nt) sequence conservation. The remainder of the genome consists of non-coding DNA with lesser sequence conservation. However, this genomic compartment may still contain small regions of functional sequence that harbor mutations important for human disease. Thus, JHU scientists have developed a novel method that prioritizes non-coding sequence for mutation detection by comparing sequence data from multiple species with human-disease marker association studies. This comparative genomics method reduces sequencing costs and enables researchers to move quickly from an identified disease association to a putative mutation. Description (Set) Proposed Use (Set) This novel technology can be used to identify both high frequency and private mutations that contribute to human genetic disease. Patent (Set) WO/2006/128042

Inventor(s): Chakravarti, Aravinda

Type of Offer: Licensing

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