Scientific & Annual General Meeting

Los Angeles

CA, U.S.A.

(Ancillary of ASHG 2003)

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Prakash Nadkarni

Database Representation of Phenotype: Research Issues

Submitted Abstracts in order of presentation

CDKN2a Database Project: Integrating Allelic Variants with Evolution, Structure, Function, and Disease-Associated Mutation: Marc S. Greenblatt - 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 Posters

An 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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