Assessing mapping progress in the Human Genome Project.

  title={Assessing mapping progress in the Human Genome Project.},
  author={David R. Cox and Eric D. Green and Eric S. Lander and Dana Cohen and Richard M. Myers},
  volume={265 5181},
An important goal of the Human Genome Project in the United States is to construct a physical map of the human genome, consisting of unique genomic landmarks at an average spacing of 100 kilobases (kb). When completed (which is projected for the year 1998), the map will consist of 30,000 ordered sites, distributed relatively evenly throughout the genome. Such a map should provide the scientific community with an invaluable resource for the localization and isolation of any human DNA sequence of… 

An STS-based radiation hybrid map of the human genome.

This STS-based radiation hybrid map of the human genome brings us one step closer to the goal of a physical map containing 30,000 unique ordered landmarks with an average marker spacing of 100 kb.

An integrated metric physical map of human chromosome 19

A metric physical map of human chromosome 19 has been generated and currently, the map consists of 51 ‘islands’ containing multiple clone types, whose size, order and relative distance are known.

A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

The physical map of human chromosome 7, a approximately 170-Mb segment of DNA that corresponds to an estimated 5% of the human genome, exceeds the goal of 100-kb average STS spacing and should provide an excellent framework for systematic sequencing of the chromosome.

High-resolution YAC-cosmid-STS map of human chromosome 13.

A high-resolution physical map of human chromosome 13 DNA is assembled from hybridization, PCR, and FISH mapping data using a specifically designed set of computer programs to facilitate accurate localization of additional markers, provide substrates for sequencing, and assist in the discovery of chromosome 13 genes associated with hereditary diseases.

Comparative genome annotation for mapping, prediction and discovery of genes

  • C. KappenJ. Salbaum
  • Biology
    36th Annual Hawaii International Conference on System Sciences, 2003. Proceedings of the
  • 2003
This work presents its framework for data interpretation and demonstrates that unfinished sequences can be used to assemble maps of complex genomic loci with good accuracy and provides criteria for the implementation of automated genome annotation strategies.

On the consistency of a physical mapping method to reconstruct a chromosome in vitro.

This paper established that a model of physical mapping by binary fingerprinting of DNA fragments is identifiable using the key assumption-for a large randomly generated recombinant DNA library, there exists a staircase ofDNA fragments across the chromosomal region of interest, and introduces epi-convergence theory of variational analysis and transforms the physical mapping problem into a constrained stochastic optimization problem.

Human whole-genome shotgun sequencing.

This article outlines an alternative approach to sequencing the human and other large genomes, which it is argued is less costly and more informative than the clone-by-clone approach.

Towards a complete Cosmid Contig map of the Short Arm Pseudoautosomal Region

This thesis describes the building of a cosmid contig map across the short arm pseudoautosomal region (PAR1) of the sex chromosomes to prepare the region in a sequence ready format.

Optimization of Restriction Fragment DNA Mapping

It is observed that the cost of an optimal mapping strategy is approximately proportional to the target size, and considerable effort is nonetheless required: for large-scale sequencing projects with up-front mapping, mapping will be a non-negligible fraction of the total sequencing cost.

The Genexpress Index: a resource for gene discovery and the genic map of the human genome.

Detailed analysis of a set of 18,698 sequences derived from both ends of 10,979 human skeletal muscle and brain cDNA clones defined 6676 functional families, characterized by their sequence

A common language for physical mapping of the human genome.

The polymerase chain reaction (PCR), a method that has only come into widespread use during the past 2 years, seems to offer a path toward a physical map that largely circumvents two problems that were prominent in the NRC Committee's discussions.

Chromosomal region of the cystic fibrosis gene in yeast artificial chromosomes: a model for human genome mapping.

A general strategy for cloning and mapping large regions of human DNA with yeast artificial chromosomes (YAC's) is described. It relies on the use of the polymerase chain reaction to detect DNA

Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes.

The RH procedure was used to map 14 DNA probes from a region of human chromosome 21 spanning 20 megabase pairs, demonstrating the effectiveness of RH mapping for constructing high-resolution, contiguous maps of mammalian chromosomes.

Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model.

The folding of chromatin in interphase cell nuclei was studied by fluorescent in situ sequences chromatin according to a random walk model and it was shown that the remaining gap in the published maps of this region is negligible in size.

Criterion for the completeness of large-scale physical maps of DNA.

  • M. OlsonP. Green
  • Physics
    Cold Spring Harbor symposia on quantitative biology
  • 1993

Nature Genet

  • Nature Genet
  • 1994

Quant. Biol

  • Quant. Biol
  • 1993