The Sixth International Workshop on Human Chromosome 1 was held at the University of Iowa in Iowa City from September 30 to October 3, 2000. The 26 participants in this workshop were from 23 institutions and 10 countries. The program included an introduction by Dr. Jeff Murray from the University of Iowa, the presentation of 24 abstracts and three information technology (IT) sessions. The goals of the workshop were to share and compile new information regarding the mapping, sequencing and analysis of human chromosome 1, promote access of data at the Sanger Centre and in other genomic databases, preview emerging tools for genome analysis and discuss efforts toward the identification of disease genes located on chromosome 1.

In his introductory remarks, Dr. Murray noted that the goals for the current workshop are similar to those of previous years. The following quote was taken from the introduction for the First International Workshop on Human Gene Mapping at Yale University (1974):

"It is our aim to review progress on human gene mapping on a yearly basis. This will permit us to confirm valid gene assignments and identify others which require confirmation or reanalysis.…Annual meetings will also provide a forum for the exchange of new concepts and methodologies. Thus, in general, such meetings can serve to contribute to the more orderly advance of human gene mapping."

Dr. Murray also shared the earliest and most recent highlights in the mapping of chromosome 1. He reminded the workshop participants that the first autosomal locus to be mapped in the human genome was mapped to chromosome 1. In 1968, Donahue and colleagues correctly mapped the Duffy locus to chromosome 1 through linkage with the chromosome 1 heteromorphism (Donahue et al., 1968). Most recently, the year 2000 saw the completion of the working draft sequence for the human genome.

Three presentations addressed the workshop goal of sharing new sequence information of human chromosome 1. Simon Gregory presented the current efforts at the Sanger Centre to map and sequence all of human chromosome 1 (see Sanger Centre section). Akira Horii (Chen et al.) described an independent effort by a Japanese 1p Consortium to map and sequence a 35 Mb region of 1p35-p36; their mapping data is publicly accessible through a web site (see 1p physical mapping section). Shiina and collaborators presented another independent mapping and sequencing effort. Their focus is the 3.7 Mb region at 1q22-q23 that is paralogous to the HLA locus.

Two presentations addressed the global contents of human chromosome 1. Simon Gregory described Ensembl, a new web-based tool developed jointly between the European Bioinformatics Institute and the Sanger Centre that analyzes finished and unfinished genomic sequence for marker and gene content. An important tool for determining gene content is sequence similarity searching of EST databases. Bento Soares (Kucaba et al., this workshop) described the strategy of serial subtraction of normalized libraries to add to existing EST databases through three projects, the Rat Gene Discovery and Mapping Program, the Mouse Brain Molecular Anatomy Project and the Cancer Genome Anatomy Project.

Most of the abstracts described efforts toward the identification of disease genes: eleven on cancer loci, two on other complex disease loci and seven on single-gene disease loci. The positions of these loci were fairly evenly divided between the short (9 abstracts) and long (13 abstracts) arms of the chromosome. The cancer loci at 1p36 and 1q21 were especially well-represented with five and four abstracts, respectively (see Neoplasia section).

As in the previous workshop (White et al., 1999a), the IT sessions at this workshop were extremely popular. These sessions achieve the goal of promoting access to genomic data. Participants were given brief tutorials on the software tools and data available at the Sanger website and the genomic cataloging project CompView (see Resources section). They were then invited to use these tools to obtain information about their region of interest.

The IT sessions also fulfill the goal of previewing emerging tools for genome analysis. Although Ensembl has been publicly available since February 2000, many participants viewed it for the first time at this workshop. The participants also learned that eGenome, a genome-wide version of CompView, will be online in early 2001. It is interesting to note that the importance of new computer-related tools was anticipated at the Human Gene Mapping 7 at UCLA (1984):

"With this meeting, efforts have been made to increase the use of computer resources in the handling of the old and new data."

	Robert S. Sparkes
	Chairman, Local Organizing Committee