S. Povey et al., REPORT ON THE 5TH INTERNATIONAL WORKSHOP ON CHROMOSOME-9 HELD AT EYNSHAM, OXFORDSHIRE, UK, SEPTEMBER 4-6, 1996, Annals of Human Genetics, 61, 1997, pp. 183-206
The Fifth International workshop on chromosome 9 comprised a gathering
of 36 scientists from seven countries and included a fairly even dist
ribution of interests along chromosome 9 as well as a strong input fro
m more global activities and from comparative mapping. At least eight
groups had participated in the goal set at the previous workshop which
was to improve the fine genetic mapping in different regions of chrom
osome 9 by meiotic breakpoint mapping in allocated regions and this ha
s resulted in some greatly improved order information. Excellent compu
ting facilities were available and all contributed maps were entered n
ot only into SIGMA (and thence submitted to GDB) but also into a dedic
ated version of ACEDB which can be accessed on the Web in the form of
one of 28 slices into which the chromosome has been arbitrarily divide
d. It was generally agreed that the amount of data is now overwhelming
and that the integration and validation of all data is not only unrea
listic in a short meeting but probably impossible until the whole chro
mosome has been sequenced and fully annotated. Sequence-ready contigs
presented at the meeting totalled about 3 MB which is about one fiftie
th of the estimated length. The single biggest barrier to integration
of maps is the problem of non-standard nomenclature of loci. In the pa
st 2 workshops efforts have been made to compare traditional 'consensu
s' maps made by human insight (still probably best for small specific
regions) with those generated with some computer assistance (such as S
IGMA) and those generated objectively by defined computer algorithms s
uch as ldb. Since no single form of map or representation is entirely
satisfactory for all purposes the maps reproduced in the published ver
sion of the report are confined to one of the genetic maps, in which G
enethon and older markers have been incorporated, a Sigma map of the g
enes as symbols together with a listing of known 'disease' genes on ch
romosome 9, and, a revised assessment of the mouse map together with a
list of mouse loci predicted to be on human chromosome 9. One of the
28 ACEDB slices is also shown to illustrate strengths and weaknesses o
f this approach. Workshop files include not. only all maps available a
t the time but also details of loci and details of the meiotic breakpo
ints in the CEPH families (http://www.gene.ucl.ac.uk/scw9db.shtml). Th
is report and other information on chromosome 9 can be found on the ch
romosome 9 homepage at the URL:http://www.gene.ucl.ac.uk/chr9/.