Human Genome News, March 1993; 4(6)

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Human Genome News, March 1993; 4(6)

GENOME CENTER:

Children's Hospital of Philadelphia

(NIH; established 1991)

DIRECTOR:
Beverly S. Emanuel

CONTACT:
Beverly Emanuel (215/590-3856, Fax: -3764; beverly@cit.med.upenn.edu)
Children's Hospital of Philadelphia
Division of Human Genetics and Molecular Biology
34th Street & Civic Center Boulevard
Philadelphia, PA 19104

OTHER KEY RESEARCHERS:
Jaclyn Biegel, Eric Rappaport, Saul Surrey

Kenneth Buetow (Fox Chase Cancer Center)

University of Pennsylvania School of Medicine:
Maja Bucan, Chris Overton, Marcia Budarf, David Searls, Kurt Fischbeck, Rebecca Taub

MAJOR GOALS:
Construction of refined genetic and physical maps of chromosome 22, including production of a "sequence-ready" contig of the euchromatic portion of 22.

MAJOR ACCOMPLISHMENTS:

Construction of maps, including (1) a chromosome 22 framework map based on 15 STRPs; (2) regional assignment of over 200 anchor markers on a regional mapping panel (21 bins); and (3) construction by PFGE of contiguous long-range maps (>15 Mb).
Production of clones/markers, including (1) construction of a 1.2X coverage YAC library from a chromosome 22-only somatic cell hybrid; (2)vover 200 STSs, 25 CA/TG repeat clones, and 70 NotI junction clones; and (3) creation of a normalized human liver cDNA library.
Construction (for cytogenetic studies) of a 100-member radiation hybrid panel (characterized by FISH) and 5 somatic cell hybrids from cell lines with deletions or translocations of chromosome 22. Banking of cell lines with chromosome 22 abnormalities.
Development of informatics capabilities, including (1) enhancement of existing Sybase to Quintus Prolog interface to support transparent access of all Sybase data types from Prolog; (2) creation of a tool for visualization of DNA sequence features in short sequencing runs; and (3) development of a Postscript tool for generating publication-quality depictions of cytogenetic maps.

AVAILABLE RESOURCES:

Normalized cDNA libraries.
STSs from human chromosome 22, including TG repeats.
Somatic cell hybrid regional mapping panel and radiation hybrid panel.
Cell lines from patients with chromosome 22 abnormalities.
Center-developed software.
YAC screening resource service for chromosome 22 STSs.

Genome Centers Acronym List

HGMIS Staff

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The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v4n6).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.