HGVS SCIENTIFIC MEETING

PROGRAMME

Ballroom C, The Hilton Hotel

Salt Lake City, Utah, USA

7.30 / Speakers arrive to register and hand in presentations
8.00 / General Registration & Poster Mounting
8.30 – 8.40 / President’s Welcome
Richard G. H. Cotton
MUTATIONS & PHENOTYPES Chair: Alastair F. Brown
8.40 – 9.00 / Ross C. Hardison
PHENCODE: Connecting ENCODE data with mutations and phenotype
9.00 – 9.20 /

Mathew D. Mailman

PhenoDB: a Knowledge base linking phenotype with disease, genotype, and the environment

9.20 – 9.40 / Christophe Béroud
Locus Specific Databases: are we now ready for gene therapy?
9.40 – 10.10 / SPONSORED LECTURE Introduced by William Oetting
Idaho Technologies
Steven F. Dobrowolski
Mutational analysis of the galactose-1-phosphate uridyltransferase (GALT) gene as a means to rectify equivocal data obtained in population-based newborn screening for galactosemia
10.10 – 10.30 / Poster Talk Session 1: Chair: Bruce Gottlieb
EVEN NUMBERS ONLY
Those who have been chosen for a poster presentation will present for five (5) minutes maximum outlining their work, without slides.
10.30 – 11.00 / Coffee Break & Poster Viewing
11.00 – 11.30 / KEYNOTE SPEAKER Introduced by Richard Cotton

Muin J. Khoury

The Human Genome Epidemiology Network (HuGENet™):
Potential Collaborations with the Human Genome Variation Society
Gene Variations and Disease Chair: Christophe Beroud
11.30 – 11.50 / I. K. Lee
Two Single Nucleotide Polymorphisms of the ETS2 transcription Factor Gene Predispose Individuals to High-Risk Acute Myelogenous Leukemia (AML)
11.50 – 12.10 / Elfride De Baere
Deletion screening of the FOXL2 and FOXC1 region involved in BPES and axenfeld-rieger malformations using high-resolution tiling path BAC microarrays
12.10 – 12.30 / Luming Zhou
Determination of population allele frequency using homogeneous, unlabeled probe analysis of pooled DNA samples
12.30 – 13.00 / Poster Talk Session 2: Chair: Mauno Vihinen
ODD NUMBERS ONLY
Those who have been chosen for a poster presentation will present for five (5) minutes maximum outlining their work, without slides.
13.10 – 14.10 / Buffet Lunch
Methodological Approaches Chair: Conover Talbot Jr.
14.10 – 14.30 / Clair F. Taylor
Evaluation of dye binding/high resolution thermal denaturation as a high-throughput mutation scanning tool
14.30 – 14.50 / Ping Liang
Retrotransposons derived Genome variations in humans: their numbers, trends, and impacts
14.50 – 15.10 / Marc S. Greenblatt
Predicting benign versus pathogenic genetic variants: validation of four methods of comparative sequence analysis in human disease genes
CDKN2A, MLH1, MECP2, and tyrosinase
15.10 – 15.30 / T.P. Sneddon
Now you see it, now you don’t
15.30 – 16.00 / Coffee Break and Posters
MUTATION DATABASES Chair: Arleen D. Auerbach
16.00 – 16.20 / Conover Talbot Jr.

WayStation redux: Lessons learned

16.20 – 16.40 /

Robert Flegg

A Review of General Mutation Databases
16.40 – 17.00 / Anthony Brookes

Exchange standard for genomic polymorphism and related data

17.00 – 17.10 /

Short Break

17.10 – 18.30 /

HGVS ANNUAL GENERAL MEETING

Non-members welcome but are unable to vote
18:30 - 20:00 / Drinks

Poster Presentations

  1. Gwenaelle Collod-Beroud
More arguments to assess the causality of FBN1 mutations
  1. Richard Cotton
A New Concept in Mutation Scanning
  1. Chia-Chien Chiang
Annotation of genetic polymorphisms in drug-metabolising enzymes
  1. Chia-Chien Chiang
Celera SNPs in Public Domain
  1. Steven F Dobrowolski
Analysis of the N-acetylglutmate synthase and ornithine transcarbamylase genes using
high resolution melt profiling
  1. Fiona Hyland
Selecting SNPs for Genetic Association Studies Based on the Genome-Wide Patterns of
Linkage Disequilibrium Inferred from the HapMap Project Data with the SNPbrowser
Software
  1. I. K. Lee
A single nucleotide polymorphism and its haplotype of ZNF42 transcriptional modulator
gene predisposes individuals to high-risk acute myelogenous leukemia (AML)
  1. Xiaoying Lin
Design and validation of resequencing primer sets for 16,334 human genes for analyses
of sequence variation and SNP discovery
9. J. McKinney
A collaborative investigation of 6 genes related to HDL-cholesterol metabolism – SNP
discovery phase for the risk burden of lipoprotein metabolic gene haplotypes project.
  1. M. Ohtsubo
Recent Progress on MutationView: Displaying relationship between protein functional
domains and mutations in human diseases
  1. Graham R. Taylor
Quality of mutation scanning by high resolution DNA melting

HGVS Scientific and Annual General Meeting, Salt Lake City, Utah, USA, 25h October 2005