The challenge of documenting mutation across the genome: the human genome variation society approach.

@article{Horaitis2004TheCO,
  title={The challenge of documenting mutation across the genome: the human genome variation society approach.},
  author={Ourania Horaitis and Richard G. H. Cotton},
  journal={Human mutation},
  year={2004},
  volume={23 5},
  pages={
          447-52
        }
}
New methods for the detection of mutations and the completion of the human genome sequencing project have contributed to an exponential rise in variation information that must be collected, quality controlled, documented, and stored safely to ensure future availability to health care professionals, researchers, and others. There may be anywhere from one to more than 1,000 mutations in any given gene. To date, this information has been collected by general databases such as Online Mendelian… CONTINUE READING

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