SOFTWARE FOR SEQUENCING BASED MUTATION DETECTION


Year of Award:
1999
Award Type:
R43
Project Number:
CA083384
RFA Number:
PAR-98-066
Technology Track:
Molecular & Cellular Analysis Technologies
PI/Project Leader:
RICHTERICH, PETER
Other PI or Project Leader:
N/A
Institution:
CODONCODE CORPORATION
CodonCode Corporation will develop a software program for mutation detection by fluorescence based sequencing. The program will combine accurate automatic detection of mutations with an intuitive graphical user interface that allows efficient interactive verification and annotation of mutations, as well as project management. Specifically, the software will be able to identify heterozygous nucleotide substitutions as well as short heterozygous insertions and deletions. The software will be written in Java to ensure system independence, and tested on both Windows98/NT and the Macintosh operating system. This will enable researchers to perform mutation analysis directly on the most commonly used desktop PCs, without the need to learn Unix.. Through fast and accurate detection of potential mutations and intuitive user interface, the software will support the rapid identification and analysis of DNA polymorphisms in clinical and basic research. CodonCode will build a product line of mutation detection software to support efficient sequence-based mutation detection in small as well as medium-size and large clinical settings. For improved support for large- scale projects, a back-end relational database and CORBA-based distributed processing will be added during Phase II of this SBIR grant. PROPOSED COMMERCIAL APPLICATIONS: The research and development will lead to a commercial software program for sequencing-based mutation detection. The software will be marketed directly CodonCode, as well as through collaborations with interested manufacturers of DNA sequencers, to researchers in clinical and basic biomedical research. The software will substantially increase the efficiency of sequencing-based mutation detection.