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Human Genome News Archive Edition

Human Genome News, Nov. 1994; 6(4):2

Children's Hospital of Philadelphia (CHOP)

(NIH, established 1991)
Kurt Fischbeck, Associate Director (Univ. of Penna. School of Med.)
CONTACT: Emanuel (215/590-3856, Fax: -3764,; CHOP; 34th St. & Civic Center Blvd.; Philadelphia, PA 19104.
Callum Bell
Jaclyn Biegel
Marcia Budarf
Kenneth Buetow (Fox Chase Cancer Center)
Chris Overton (Univ. of Penna. School of Med.)
Eric Rappaport
Bruce Roe (Univ. of Okla.)
David Searls (Univ. of Penna. School of Med.)
Saul Surrey


  • Construction of high-resolution genetic and physical maps of chromosome 22 in yeast artificial chromosomes and cosmids.
  • Production of a "sequence-ready" contig of the euchromatic portion of chromosome 22.
  • Sequencing of 25 Mb of chromosome 22 to produce a "sequence-read" map from the "sequence-ready" map.


  • Construction of a chromosome 22 framework map based on 20 short tandem repeat polymorphisms.
  • Regional assignment of over 300 anchor markers on a regional mapping panel (25 bins).
  • Construction of 15 yeast artificial chromosome contigs covering at least 70% of the chromosome.
  • Over 250 sequence tagged sites screened to identify almost 700 yeast artificial chromosomes. Contigs contain as many as 78 sequence tagged sites.
  • Production of clones and markers, including (1) construction of a 1.2ö coverage yeast artificial chromosome library from a chromosome 22-only somatic cell hybrid; (2) over 200 sequence tagged sites, 48 CA+TG repeat clones, and 70 Not I junction clones; and (3) creation of a normalized human liver cDNA library.
  • Construction of a 100-member radiation hybrid panel (characterized by fluorescence in situ hybridization) and 5 somatic cell hybrids from cell lines with chromosome 22 deletions or translocations. 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 tool for visualizing DNA sequence features in short sequencing runs; and (3) development of Postscript tool for generating publication-quality depictions of cytogenetic maps.


  • 477 human chromosome 22 sequence tagged sites from ftp site [ (type: cdpub/22)]).
  • Somatic cell hybrid regional mapping panel and radiation hybrid panel.
  • Cell lines from patients with chromosome 22 abnormalities.
  • Center-developed software.
  • Yeast artificial chromosome and cosmid screening resource service for chromosome 22 sequence tagged sites and probes.
  • Arrayed chromosome 22 cosmid library.
  • Total human yeast artificial chromosome libraries (Centre d'Etude du Polymorphisme Humain).

HGMIS staff

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Human Genome Program, U.S. Department of Energy, Human Genome News (v6n4).

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.

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