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Scientific & Annual General MeetingLos AngelesCA, U.S.A.(Ancillary of ASHG 2003) |
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INVITED SPEAKERPrakash NadkarniDatabase Representation of Phenotype: Research IssuesSubmitted Abstracts in order of presentationCDKN2a Database Project: Integrating Allelic Variants with Evolution, Structure, Function, and Disease-Associated Mutation: Marc S. Greenblatt findis.org - Finnish Disease Database: Anna-Kaisa Anttonen How to curate 100 LSDBs?: Mauno Vihinen The UMD software to Create Locus Specific Databases: Christophe Beroud The UMD Central System: A New Tool to Query Simultaneously Multiple UMD Locus Specific Databases Christophe Beroud Locus Specific Databases in the 21st Century: Bruce Gottlieb LSDB in a Box - Status Report: Alastair F. Brown Developments in dbSNP for 2003: Steve T. Sherry Reinventing the GDB Human Genome Database: A. Jamie Cuticchia MutRes and parsing LSDB data into HGVbase: Heikki Lehvaslaiho Detecting copy number changes in genomic DNA using multi-colour multiplex ligation-dependent probe amplification: Stephan White Field inversion gel electrophoresis (FIGE) for the analysis of the CCTG repeat in the ZNF9 gene causing myotonic dystrophy type 2: Nancy Carson Structural Polymorphism of DNA in Solution of Homologous Duplexes and Its Consequences for Heteroduplex Formation Procedure: Marianna G. Yakubovskaya An innovative protocol combining multiplex QF-PCR and fluorescent conformation sensitive capillary electrophoresis (FCSCE) for unified dosage analysis and point mutation screening: Emma Ashton Autoimmunity Related Genes and their Evolutionary Fate as Reflected in Three Inbred Ethnic Groups: Iris Grossman The Genome Variation WayStation Now Open for Submissions: Saeed A. Teebi Current Mutation Database Quality: Steve Callaghan Extraction of cancer-specific genomic variation from the biomedical literature: Peter S. White Text mining of sequence variations and linking them to diseases, genes and proteins: Trevor Clancy Analysis of dystrophin mRNA show nonsense, splice and cryptic splice site mutations cause Becker muscular dystrophy: S. C. Yau MutationView: An Integrated Knowledge-Base for Variation in Human Disease Genes- Intelligent Search System and Genome-wide Data Construction: Shinsei Minoshima Mutation Quantifier Software to Detect DNA Variants and to Measure Allele Frequency with DNA Samples by DNA Sequence Method: Jonathan Liu Williams Syndrome Animal Model: Frank H. Ruddle MEFV Gene Mutations in Iranian Patients with Familial Mediterranean Fever (FMF): Seyed Javad Mirhassani Moghaddam Five Minute Presentations in lieu of PostersAn Automated Data storage and Analysis System for Diagnostic SNP Marker Discovery using High-throughput Genotyping: Kyunghee Park Rapid Detection of Genomic Rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex PCR Amplification of Short Fluorescent Fragments: Extensive Allelic Heterogeneity and Diverse Mutational Mechanisms: Jian-Min Chen Two Novel Severe Mutations in the Pancreatic Secretory Trypsin Inhibitor Gene (SPINK1) Cause Familial or/and Hereditary Pancreatitis: Jian-Min Chen
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