OBJECTIVE ANALYSIS OF CHROMOSOME BANDING PATTERNS

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This project aims to develop and commercialize significantly improved software for chromosome banding pattern analysis and anomaly detection. Used with modern computerized chromosome analysis, this will allow objective characterization and convenient display of chromosome banding patterns, and quantitative comparison of chromosomes to normal and abnormal prototypes and to each other. This will help to detect and quantify sub-visible band pattern alterations, particularly with high resolution banding. This will significantly increase the ability of automated chromosome analysis instruments to evaluate chromosome alterations in normal and neoplastic mammalian cells. Specifically, we will use frequently domain eigenanalysis, a new image analysis technique developed at the Baylor College of Medicine (BCM), to decompose chromosome images into components, selecting those that reflect relevant characteristics of the banding pattern while eliminating components reflecting preparatory artifact, inter- chromosome variation, and other irrelevant differences. We will extend the eigenanalysis software so that it can (1) interactively test chromosomes for specific abnormalities, 2) automatically screen chromosomes for a specified group of abnormalities, (3) automatically classify chromosome by comparing each to the prototype of each homolog type, (4) compare homologs to each other to detect subtle abnormalities and (5) develop prototypical chromosome images for groups of people manifesting genetically linked diseases and compare these with normals. We will implement this on PSII's Genetiscan commercial automatic karyotyping workstation. PROPOSED COMMERCIAL APPLICATION: As soon as the analysis is developed and qualified for routine application, it will be incorporated into PSII's GENETISCAN products, both in new systems sold and as an upgrade to existing systems.