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<?xml version="1.0" standalone="yes"?> <Paper uid="W04-3112"> <Title>Mork</Title> <Section position="6" start_page="7" end_page="7" type="concl"> <SectionTitle> 8 Conclusion </SectionTitle> <Paragraph position="0"/> <Section position="1" start_page="7" end_page="7" type="sub_section"> <SectionTitle> Potential Knowledge Discovery </SectionTitle> <Paragraph position="0"> To determine whether our automatic comparison of MEDLINE to OMIM based on SemGen predications might throw new light on gene-gene interactions, we examined predications found in the MEDLINE file that had no match in the OMIM file. We searched the OMIM reports for information on the genes found in such predications to confirm that they were absent from the OMIM reports. For example, while the OMIM report on colon cancer did not mention BARD1, the SemGen output for MEDLINE had 22) BARD1|INTERACT_WITH|hmsh2 The abstract containing this predication (PMID 11498787) asserts that the BARD1 gene (LocusID 580) interacts with the breast cancer gene BRCA1 as well as with hMSH2, a mismatch repair gene associated with colon cancer. BARD1 shares homology with the two conserved regions of BRCA1 and also interacts with the N-terminal region of BRCA1. Interaction of BARD1 with BRCA1 could be essential for the function of BRCA1 in tumor suppression.</Paragraph> <Paragraph position="1"> Conversely, disruption of this interaction may possibly contribute to the process of oncogenesis. It has been reported that the BRCA1/BARD1 complex is responsible for many of the tumor suppression activities of BRCA1 (Baer and Ludwig 2002). The gene hMSH2 (LocusID 4436) is one of a number of genes that, when mutated, predisposes to colon cancer type 1. It is the human homolog of the bacterial mismatch repair gene mutS. We hypothesize that the interaction of BARD1 with hMSH2, in a similar fashion to BRCA1, may be necessary for tumor suppression. Disruption of this interaction may increase the likelihood of developing colon cancer. Furthermore, this observation serves to point toward a possible link between BRCA1 and colon cancer. null We have extended earlier work with SemGen (Rindflesch et al. 2003) and are now able to extract from text, in addition to names of gene and disorders, genedisorder and gene-gene relations. Although SemGen is not at a stage where it can be used indiscriminately and without selective review and evaluation, it may nevertheless prove useful for reviewers by providing an efficient means of scanning a large number of references and extracting relations involving genes and diseases.</Paragraph> <Paragraph position="2"> The process of curation and review is time consuming. Given the rate at which new publications are added to the scientific literature, the availability of tools for accelerating the review process would meet a real need.</Paragraph> <Paragraph position="3"> As demonstrated by our pilot study on six disorders, SemGen could prove useful, even at this prototype stage, in extracting relevant information from the literature concerning genes and diseases. Additionally, the ability to scan and extract information from diverse scientific domains could play an important role in identifying new relationships between genes and diseases that would promote hypothesis-generation and advance scientific research. Even with the present limitations, SemGen could assist in making the scientific literature more accessible and reduce the time it takes for researchers to update their knowledge and expertise.</Paragraph> </Section> </Section> class="xml-element"></Paper>