RT Journal
A1 Korenberg, Julie R.
A1 Chen, Xiao-Ning
A1 Sun, Zhiguang
A1 Shi, Zheng-Yang
A1 Ma, Shaowu
A1 Vataru, Eddy
A1 Yimlamai, Dean
A1 Weissenbach, Jean S.
A1 Shizuya, Hiroaki
A1 Simon, Melvin I.
A1 Gerety, Sebastian S.
A1 Nguyen, Huy
A1 Zemsteva, Irina S.
A1 Hui, Lester
A1 Silva, James
A1 Wu, Xiaoyun
A1 Birren, Bruce W.
A1 Hudson, Thomas J.
T1 Human Genome Anatomy: BACs Integrating the Genetic and Cytogenetic Maps for Bridging Genome and Biomedicine
JF Genome Research 
JO Genome Research 
YR 1999 
FD October 01 
VO 9 
IS 10 
SP 994 
OP 1001 
DO 10.1101/gr.9.10.994 
UL http://genome.cshlp.org/content/9/10/994.abstract 
AB Human genome sequencing is accelerating rapidly. Multiple genome maps link this sequence to problems in biology and clinical medicine. Because each map represents a different aspect of the structure, content, and behavior of human chromosomes, these fundamental properties must be integrated with the genome to understand disease genes, cancer instability, and human evolution. Cytogenetic maps use 400–850 visible band landmarks and are the primary means for defining prenatal defects and novel cancer breakpoints, thereby providing simultaneous examination of the entire genome. Recent genetic, physical, and transcript maps use PCR-based landmarks called sequence-tagged sites (STSs). We have integrated these genome maps by anchoring the human cytogenetic to the STS-based genetic and physical maps with 1021 STS–BAC pairs at an average spacing of ∼1 per 3 Mb. These integration points are represented by 872 unique STSs, including 642 polymorphic markers and 957 bacterial artificial chromosomes (BACs), each of which was localized on high resolution fluorescent banded chromosomes. These BACs constitute a resource that bridges map levels and provides the tools to seamlessly translate questions raised by genomic change seen at the chromosomal level into answers based at the molecular level. We show how the BACs provide molecular links for understanding human genomic duplications, meiosis, and evolution, as well as reagents for conducting genome-wide prenatal diagnosis at the molecular level and for detecting gene candidates associated with novel cancer breakpoints.