Grant Details
Grant Number: |
1R43CA090095-01 Interpret this number |
Primary Investigator: |
Magness, Charles |
Organization: |
Illumigen Biosciences, Inc. |
Project Title: |
Automated Sequence Variation Analysis Software |
Fiscal Year: |
2001 |
Abstract
Development of an automated DNA sequence variation analysis software and data
management package is proposed. The software is aimed at analyzing diploid
sequencing and methylation analysis samples from patients in a study population
that have been stratified by some defining criteria or phenotype in relation to a
disease of interest. The goal of the software is to detect relatively rare sequence
variations or methylation state changes which when analyzed for functional effect
can be statistically correlated with the phenotype of interest. In this Phase I proposal,
we propose to extend an existing database architecture and develop pre-processing
software that will characterize all observed variations (including frameshifts) and
provide a score related to the likelihood that the observed variation is present in the
sample.
PROPOSED COMMERCIAL APPLICATION:
The pharmaceutical and biotechnology industry is expected to become increasingly
reliant in their drug development efforts on the ready identification of new and
existing polymorphisms in clinical and other study populations of humans. The
software developed using this grant will become centrally important in reliably
identifying and assaying polymorphisms from diploid genomic sources.
Publications
Progressive bilateral lipoma arborescens of the knee complicated by juvenile spondyloarthropathy: a case report and review of the literature.
Authors: Xue J.
, Alario A.J.
, Nelson S.D.
, Wu H.
.
Source: Seminars in arthritis and rheumatism, 2013 Oct; 43(2), p. 259-63.
EPub date: 2013-01-24.
PMID: 23352250
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Zebrafish as a developmental model organism for pediatric research.
Authors: Veldman M.B.
, Lin S.
.
Source: Pediatric research, 2008 Nov; 64(5), p. 470-6.
PMID: 18679162
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