Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

@article{Goldgar2008GeneticEA,
  title={Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.},
  author={David E. Goldgar and Douglas F. Easton and Graham B. Byrnes and Amanda B Spurdle and Edwin S. Iversen and Marc S. Greenblatt},
  journal={Human mutation},
  year={2008},
  volume={29 11},
  pages={1265-72}
}
Genetic testing often results in the finding of a variant whose clinical significance is unknown. A number of different approaches have been employed in the attempt to classify such variants. For some variants, case-control, segregation, family history, or other statistical studies can provide strong evidence of direct association with cancer risk. For most variants, other evidence is available that relates to properties of the protein or gene sequence. In this work we propose a Bayesian method… CONTINUE READING

From This Paper

Figures, tables, and topics from this paper.

Explore Further: Topics Discussed in This Paper

Citations

Publications citing this paper.
Showing 1-10 of 68 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 39 references

IARC Unclassified Genetic Variants Working Group

FJ Couch, L Rasmussen, +3 authors N de Wind
2008

Similar Papers

Loading similar papers…