Primer on medical genomics part I: History of genetics and sequencing of the human genome.

@article{Lorentz2002PrimerOM,
  title={Primer on medical genomics part I: History of genetics and sequencing of the human genome.},
  author={Cindy Pham Lorentz and Eric D. Wieben and Ayalew Tefferi and David A. H. Whiteman and Gordon W. Dewald},
  journal={Mayo Clinic proceedings},
  year={2002},
  volume={77 8},
  pages={
          773-82
        }
}
In comparison with most other disciplines of science, the field of genetics is still in its youth. The majority of scientific work in genetics has been done in the past 150 years. The successful preliminary sequencing of the human genome was announced in 2001. Nonetheless, interest in heredity and in other concepts within the field of genetics has existed since the beginning of humanity. This article provides an account of the history of genetics, spanning from humankind's initial attempts to… 
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References

SHOWING 1-10 OF 137 REFERENCES
The application of DNA recombinant technology to the analysis of the human genome and genetic disease
TLDR
Recombinant DNA technology permits the isolation of libraries of DNA sequences corresponding to either the whole genome of an individual or the expressed sequences of a given cell type, which allows the development of antenatal diagnoses for monogenic diseases even in the absence of an understanding of the biochemical defect.
Molecular genetics of Huntington's disease.
TLDR
It is to be hoped that cloning and characterizing the disease gene will also yield the necessary information to develop an effective therapy, and this increased capability for DNA markers will soon provide presymptomatic diagnosis for this disorder.
The Sequence of the Human Genome
  • J. Gern
  • Biology, Medicine
    Science
  • 2001
TLDR
Two assembly strategies—a whole-genome assembly and a regional chromosome assembly—were used, each combining sequence data from Celera and the publicly funded genome effort to determine the genetic sequence of the entire human genome.
Joseph Adams (1756-1818): a forgotten founder of medical genetics.
TLDR
Few systematic accounts of hereditary diseases in man appear to have been published before the twentieth century, but the striking sex-linked character of traits, such as color blindness and hemophilia, had also been established near the end of the eighteenth century and the beginning of the twenties.
Origins of the human genome project
  • J. Watson, R. Cook-Deegan
  • Biology
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 1991
TLDR
The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms, and a second goal is to develop new technologies to perform mapping and sequencing.
The Human Genome
TLDR
Even in this unpolished state, these two books provide the most comprehensive look at the human genome ever possible; they offer a tantalizing glimpse at the wealth of information contained in the sequence.
The DNA sequence of human chromosome 22
TLDR
The sequence of the euchromatic part of human chromosome 22 is reported, which consists of 12 contiguous segments spanning 33.4 megabases, contains at least 545 genes and 134 pseudogenes, and provides the first view of the complex chromosomal landscapes that will be found in the rest of the genome.
Human Genome Project.
A century of DNA. A history of the discovery of the structure and function of the genetic substance
TLDR
A Century of DNA traces the history of DNA research across interrelated subjects, including embryology, biophysics, organic chemistry, histology, physiological chemistry, and genetics, and incorporates biographical material on researchers involved in these discoveries.
Initial sequencing and analysis of the human genome
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.
...
...