Informatics 



Abstracts 



The Human Genome Information Resource 



Christian Burks. T. Michael Cannon, Michael J. Cinkosky. James W. Fickett, 



C. Edgar Hiklebrand. James H. Jetl. Rebecca J. Koskeia, Frances A. Martinez, 



Debra Nelson. Robert M. Pecherer. Karen R. Schenk, Robert D. Sutherland, 



David C. Torney. and Clive C. Whittaker 



Theoretical Biology and Biophysics Group, Los Alamos National Laboratory, 



Los Alamos. NM »1545 



(305) 667-7510, FTS 843-7510 



Overview. The goal of the Los Alamos National Laboratory (LAND Human Genome 

 Information Resource (HGIR) — to develop information management and analysis tools 

 for physical mapping data — reflects an interest in linking databases from two or more 

 biological disciplines with the long-term objective of extending similar research to other 

 related data sets such as nucleotide sequences and genetic maps. 



The HGIR project has focused initially on developing strategies and tools for 

 facilitating the flow of data from electrophoretic gels into computers and, once in the 

 computer, into various formats for access and analysis. The reasons for this focus are 

 the desirability of examining and manipulating "real" experimental data and HGIR's 

 close ties with the LANL Life Sciences Division experimental group, who are currently 

 developing a cosmid-based physical map of human chromosome 16. The flow of data 

 begins with the digitization and processing of electrophoretic images. Data corre- 

 sponding to the clones analyzed on the electrophoretic gels are then passed into a 

 computerized database — the Laboratory Notebook (see below). The availability of these 

 data for subsequent analysis of clone fingerprints leads to the development of contig 

 maps and — eventually — comparison to other, related data sets that will allow for 

 higher-order assemblies and ordering of contigs. 



At the end of this flow path, the need for more sophisticated data management, analysis, 

 and interface tools becomes evident: therefore, the thrust of the HGIR project will shift 

 to the development of these tools and their use. To facilitate the cross-linking among 

 multiple levels of physical mapping data, as well as between physical maps and other 

 related data sets (e.g., sequences and genetic maps), our data structure design work is 

 being undertaken with this emphasis (and the future extension to yet unrecognized data 

 structures) in mind. Finally, we plan to design an on-line system and set of interfaces to 

 provide these data and tools to a user community more broad than that of the current in- 

 house activity. 



Laboratory Notebook. The Laboratory Notebook database is designed to be useful, with 

 little modification, for most mapping strategies. Representing an electronic (and 

 advantageous) alternative to the ubiquitous paper notebook traditionally used in the 

 laboratory to maintain experimental data, the Laboratory Notebook was designed to 

 manage data resulting not only from experiments, but also from information relating to 



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