Report on the 1996 International chromosome 9 workshop

S. Povey, J. Attvvood, B. Chadwick, J. Frezal, J. L. Haines, M. Knowles, D. J. Kwiatkowski, O. I. Olopade, S. Slaugenhaupt, N. K. Spurr, M. Smith, K. Steel, J. A. White, Margaret A Pericak-Vance

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Abstract

The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from 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 chromosome 9 by meiotic breakpoint mapping in allocated regions and this has resulted in some greatly improved order information. Excellent computing facilities were available and all contributed maps were entered not only into SIGMA (and thence submitted to GDB) but also into a dedicated 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 divided. It was generally agreed that the amount of data is now overwhelming and that the integration and validation of all data is not only unrealistic in a short meeting but probably impossible until the whole chromosome has been sequenced and fully annotated. Sequence-ready contigs presented at the meeting totalled about 3 MB which is about one fiftieth of the estimated length. The single biggest barrier to integration of maps is the problem of non-standard nomenclature of loci. In the past 2 workshops efforts have been made to compare traditional 'consensus' maps made by human insight (still probably best for small specific regions) with those generated with some computer assistance (such as SIGMA) and those generated objectively by defined computer algorithms such as ldb. Since no single form of map or representation is entirely satisfactory for all purposes the maps reproduced in the published version of the report are confined to one of the genetic maps, in which Genethon and older markers have been incorporated, a Sigma map of the genes as symbols together with a listing of known 'disease' genes on chromosome 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 25 ACEDB slices is also shown to illustrate strengths and weaknesses of this approach. Workshop files include not only all maps available at the time but also details of loci and details of the meiotic breakpoints in the CEPH families.

Original languageEnglish
Pages (from-to)183-206
Number of pages24
JournalAnnals of Human Genetics
Volume61
Issue number3
DOIs
StatePublished - May 1 1997
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Povey, S., Attvvood, J., Chadwick, B., Frezal, J., Haines, J. L., Knowles, M., Kwiatkowski, D. J., Olopade, O. I., Slaugenhaupt, S., Spurr, N. K., Smith, M., Steel, K., White, J. A., & Pericak-Vance, M. A. (1997). Report on the 1996 International chromosome 9 workshop. Annals of Human Genetics, 61(3), 183-206. https://doi.org/10.1017/S0003480097006106