Genomics Taxonomy References

  1. BEST (Biomarkers, EndpointS, and other Tools) Resource https://www.ncbi.nlm.nih.gov/books/NBK338448/#IX-S
  2. NCI Dictionary of Cancer Terms https://www.cancer.gov/publications/dictionaries/cancer-terms
  3. NCI Dictionary of Genetic Terms https://www.cancer.gov/publications/dictionaries/genetics-dictionary
  4. NHGRI Talking Glossary Dictionary of Terms https://www.genome.gov//genetics-glossary/c#glossary
  5. PDQ Cancer Genetics Overview. https://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq#_146
  6. PharmGKB https://www.pharmgkb.org/
  7. Presidential Commission for the Study of Bioethical Issues (2013). ANTICIPATE and COMMUNICATE Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts. https://bioethicsarchive.georgetown.edu/pcsbi/sites/default/files/FINALAnticipateCommunicate_PCSBI_0.pdf
  8. Richards et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine.
  9. Stratton, M., Campbell, P., & Futreal, P. (2009). The cancer genome. Nature, 9;458, 719-724. doi: 10.1038/nature07943.
  10. Sukhai, M., Craddock, K., Thomas, M. et al. A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer. Genet Med 18, 128–136 (2016). https://doi.org/10.1038/gim.2015.47
  11. National Human Genome Research Institute. (2020). Cost of Genome. https://www.genome.gov/about-genomics/fact-sheets/DNA-Sequencing-Costs-Data Accessed 5/27/2020.
  12. Richards, S., Aziz, N., Bale, S., et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 17(5), 405-424. doi:10.1038/gim.2015.30
  13. PDQ Genetics of Breast and Gynecologic Cancers. (2020).  https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq#_110_toc
  14. PDQ Genetics of Colorectal Cancer. (2020).  https://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq#_2986_toc
  15. National Human Genome Research Institute Chromosome Abnormality Fact Sheet. (2020). https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet
  16. Li¸M., Datto, M., Duncavage, E.J., et al. (2016). Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. The Journal of Molecular Diagnostics, 19, 4e23.  DOI: https://doi.org/10.1016/j.jmoldx.2016.10.002
  17.  Ulaner, G. A., Riedl, C. C., Dickler, M. N., Jhaveri, K., Pandit-Taskar, N., & Weber, W. (2016). Molecular Imaging of Biomarkers in Breast Cancer. Journal of nuclear medicine : official publication, Society of Nuclear Medicine, 57 Suppl 1(Suppl 1), 53S–9S. https://doi.org/10.2967/jnumed.115.157909
  18. Mandelker, D. and O. Ceyhan-Birsoy, Evolving Significance of Tumor-Normal Sequencing in Cancer Care. Trends Cancer, 2020. 6(1): p. 31-39. PMID: 31952779