Programme
| 08:30-08:55 | Registration, Coffee |
| 08:55-09:00 | Welcome |
| Introduction - Sue Povey | |
| 09:00-10:30 | Session I: Copy Number Variation (Invited Speaker Session) |
|
Chair: Anthony J. Brookes Evan Eichler - A genome-wide perspective of copy-number variation Xavier Estivill - Structural Variants: An unlimited source of human genome variability? John Armour - Variation and evolution of human defensin genes |
|
| 10:30-11:00 | Coffee and Posters |
| 11:45-12:00 | Session II: Copy Number Variation (Methods) |
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Chair: Sue Povey (talks 5 min each including questions) Anthony J. Brookes - A Molecular Counting Technology For Research Into Copy-Number Variation Nadia L. Prigoda - Comparison of QM-PCR and MLPA for detection of deletions or duplications in ENG and ACVRL1 J.T. den Dunnen - A bead-based approach for the cost-effective deletion/duplication screening of up to 1500 loci in one assay |
|
| 11:00-11:45 | Session III: Copy Number Variation |
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Chair: John Armour (talks 15 min each including questions) Ping Liang - Unusual Sequence Features of CNP Regions D.M. Church - Representation of large-scale genome variation using alternate assemblies J.L. Harrow - HAVANA genome annotation |
|
| 12:00-12:45 | Session IV: Copy Number Variation (Discussion) |
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Chair: Sue Povey Tam Sneddon - Variable copy number gene nomenclature followed by Discussion on Copy Number Variation and Nomenclature |
|
| 12:45-13:30 | Light Lunch and Posters |
| 13:30-15:00 | Session V: General Variation Topics |
Chair: C. Conover Talbot Jr. (talks 15 min each including questions) Gerome Breen - The Need For, and Design of, Tandem Repeat Nomenclature Maris Laan - Diversity patterns of gonadotropin hormone beta gene family: reflection of gene history, meiotic and evolutionary forces Ian N.M. Day - IDDM2 locus: 5'-noncoding intron I splicing and translational efficiency effects of INS -23HphI - more than a tag for the INS promoter VNTR Mauno Vihinen - From genes to diseases: Exploring disease-causing mutations by analysing amino acid substitutions at the sequence and structural level Ross Hardison - Phencode: Paving The Path Between Phenotype And Genome Andrew Devereau - DMuDB: a shared mutation repository for UK diagnostic laboratories |
| 15:00-15:30 | Session VI: Copy Number Variation (Conclusions on Nomenclature) |
| Summing Up and Tentative Conclusions on CNV Nomenclature | |
| 15:30 | Close of Meeting (to allow attendance at HGM2006) |
Created Monday, 16-Jan-2006 17:17:35 GMT
Updated Tuesday, 01-Aug-2006 15:21:42 BST
Updated Tuesday, 01-Aug-2006 15:21:42 BST
