Bioinformatic Tools for Genomic DNA Sequence Dimorphisms (Indels)
Background:
The National Cancer Institute,
Center for Cancer Research, Mouse Cancer Genetics Program is
seeking statements of capability or interest from parties
interested in collaborative research to further develop, evaluate,
or commercialize identification and use of such genomic DNA
sequence insertion/deletion dimorphisms (indels). Applications
include:
- A new bioinformatics software tool that can
easily identify dimorphisms and can help create a searchable
database and graphical interface containing sites of dimorphisms
and information regarding functional effects of
dimorphisms.
- Low cost, high-throughput PCR based methods to
identify dimorphic repetitive elements from any eukaryotic genome
including individual tissue specimens.
- Methods to determine functional consequences
of dimorphisms (indels).
Technology:
This invention describes new
methods to identify genomic DNA sequence dimorphisms called indels
and to determine their biological consequences. "Indels" refers to
large insertions and deletions, a form of variation in DNA
sequences, that can cause genotypic and phenotypic differences
between cells, tissues, individuals, populations or species. The
technology describes new bioinformatic tools and high-throughput
methods to identify such dimorphisms. Additionally, the technology
provides new assays to distinguish genomic sequences by genotyping,
understand the role of such indels in altering gene expression, for
example in disease pathogenesis, develop new models for variation
in genomes and in gene expression, and improve methods for the
molecular diagnosis and treatment of disease.
Development Status:
- Bioinformatics software tools are ready for use.
- High-throughput PCR methods have been validated.
- Annotated mouse genes whose expression is altered by dimorphic
indels have been identified.
IP Status:
U.S. Provisional Application No. 60/841,089 filed 29 Aug 2006
Contact
Information:
John D. Hewes, Ph.D., NCI
Technology Transfer Center
Phone: 301-435-3121
E-mail: Hewesj@mail.nih.gov
Reference: #480 JH
Updated 10/24/2007
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