Skip to Main Content

Identifying the Genomic Basis of Biological Variation: Works Cited

By Diane P. Genereux

Works Cited

Animal Anatomy Coloring Book: Incredibly Detailed Self-Test Veterinary Anatomy Color Workbook, by Anat-omy Academy. Muze, 2021.

Antaki, Danny et al. “A Phenotypic Spectrum of Autism Is Attributable to the Combined Effects of Rare Vari-ants, Polygenic Risk and Sex.” Nature Genetics 54, no. 9 (2022): 1284–92.

Axelsson, Erik, et al. “The Genomic Signature of Dog Domestication Reveals Adaptation to a Starch-Rich Di-et.” Nature 495, no. 7441 (2013): 360–64.

Bodmer, W. F., and Robin McKie. The Book of Man: The Human Genome Project and the Quest to Discover our Genetic Heritage. (Orig. published by Scribner, 1994.) 1997, Oxford.

Burian, Alexis N., et al. “Genome Sequencing Guide: An Introductory Toolbox to Whole‐Genome Analysis Methods.” Biochemistry and Molecular Biology Education 49, no. 5 (2021): 815–25.

Crouch, Daniel J. M., and Walter F. Bodmer. “Polygenic Inheritance, GWAS, Polygenic Risk Scores, and the Search for Functional Variants.” Proceedings of the National Academy of Sciences 117, no. 32 (2020): 18924–33.

Deininger, Prescott. “What Does the Fact That We Share 95 Percent of Our Genes with the Chimpanzee Mean? And How Was This Number Derived?” Scientific American, March 1, 2004. Retrieved April 1, 2023.

Fairbanks, Daniel J. Gregor Mendel: His Life and Legacy. Prometheus, 2022.

Folstein, Susan, and Michael Rutter. “Infantile Autism: A Genetic Study of 21 Twin Pairs.” Journal of Child Psychology and Psychiatry 18, no. 4 (1977): 297–321.

Frayling, T. M. “Genome-Wide Association Studies: The Good, the Bad and the Ugly.” Clinical Medicine 14, no. 4 (2014): 428–431.

French, J. D., and S. L. Edwards. “The Role of Noncoding Variants in Heritable Disease.” Trends in Genetics 36, no. 11 (2020): 880–91.

Gorman, James. “They’re All Good Dogs, and It Has Nothing to Do with Their Breed.” The New York Times, April 28, 2022.

Green, Elon. “Rewriting Autism History.” The Atlantic, August 17, 2015.

Hayes, Ben. “Overview of Statistical Methods for Genome-Wide Association Studies (GWAS).” In Ge-nome-Wide Association Studies and Genomic Prediction, edited by Cedric Gondro, Julius van der Werf, and Ben Hayes, 149–69. Humana/Springer, 2013.

Heather, James M., and Benjamin Chain. “The Sequence of Sequencers: The History of Sequencing DNA.” Genomics 107, no. 1 (January 2016): 1–8.

Hiller, Michael, et al. “A ‘Forward Genomics’ Approach Links Genotype to Phenotype Using Independent Phenotypic Losses among Related Species.” Cell Reports 2, no. 4 (2012): 817–23.

Holmes, Michael W., et al. “Natural History Collections as Windows on Evolutionary Processes.” Molecular Ecology 25, no. 4 (2016): 864–81.

Hughes, G. M. Comparative Physiology of Vertebrate Respiration. (Orig. published by Harvard, 1963.) Reprint. Hassell Street Press, 2021.

Ikegawa, Shiro. “A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going.” Genomics & Informatics 10, no. 4 (2012): 220–25.

Indrischek, Henrike, et al. “Vision-Related Convergent Gene Losses Reveal SERPINE3’s Unknown Role in the Eye.” eLife 11, no. e77999 (2022): 1–29.

Jones, Kate E., et al. “PanTHERIA: A Species‐Level Database of Life History, Ecology, and Geography of Ex-tant and Recently Extinct Mammals: Ecological Archives E090‐184.” Ecology 90, no. 9 (2009): 2648.

Judson, Horace Freeland. The Eighth Day of Creation: Makers of the Revolution in Biology. Expanded edition. (Orig. published by Simon & Schuster, 1979.) Cold Spring Harbor Laboratory, 1996 (CH, May’97, 34-5072).

Katz, Brigit. “Rethinking the Corny History of Maize.” Smithsonian Magazine, December 14, 2018.

Kistler, Logan, et al. “Multiproxy Evidence Highlights a Complex Evolutionary Legacy of Maize in South America.” Science 362, no. 6420 (2018): 1309–13.

Klein, Robert J., et al. “Complement Factor H Polymorphism in Age-Related Macular Degeneration.” Science 308, no. 5720 (2005): 385–89.

Landry, Latrice G., et al. “Lack of Diversity in Genomic Databases Is a Barrier to Translating Precision Medi-cine Research into Practice.” Health Affairs 37, no. 5 (2018): 780–85.

Lewis, Cathryn M., and Evangelos Vassos. “Polygenic Risk Scores: From Research Tools to Clinical Instru-ments.” Genome Medicine 12, no. 44 (2020): 1–11.

Loos, Ruth J. F. “15 Years of Genome-Wide Association Studies and No Signs of Slowing Down.” Nature Communications 11 (2020): 5900.

Mandelker, Diana, and Ozge Ceyhan-Birsoy. “Evolving Significance of Tumor-Normal Sequencing in Cancer Care.” Trends in Cancer 6, no. 1 (2020): 31–39.

Martin, Alicia R., et al. “Increasing Diversity in Genomics Requires Investment in Equitable Partnerships and Capacity Building.” Nature Genetics 54, no. 6 (2022): 740–45.

McGuire, Amy L., et al. “The Road Ahead in Genetics and Genomics.” Nature Reviews Genetics 21 (2020): 581–596.

Mielke, James H., Lyle W. Konigsberg, and John H. Relethford. Human Biological Variation. 2nd ed. Oxford, 2011.

Morrill, Kathleen et al. “Ancestry-Inclusive Dog Genomics Challenges Popular Breed Stereotypes.” Science 376, no. 6592 (2022): 1–15.

Neill, Ushma S. “A Conversation with Mary-Claire King.” The Journal of Clinical Investigation 129, no. 1 (2019): 1–3.

O’Brien, Stephen J., et al. “The Promise of Comparative Genomics in Mammals.” Science 286, no. 5439 (1999): 458–81.

O’Sullivan, Jack W., et al. “Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement from the American Heart Association.” Circulation 146, no. 8 (2022): e93-e118.

Papanicolaou, Natali, and Alessandro Bonetti. “The New Frontier of Functional Genomics: From Chromatin Architecture and Noncoding RNAs to Therapeutic Targets.” SLAS Discovery 25, no. 6 (2020): 568–80.

Pervez, Muhammad Tariq, et al. “A Comprehensive Review of Performance of Next-Generation Sequencing Platforms.” BioMed Research International no. 2022 (2022): 1–12.

Schmidt-Nielsen, Knut. Animal Physiology: Adaptation and Environment. 5th edition. (Orig. published 1975.) Cambridge, 1997.

Smithers, D. W. “Family Histories of 459 Patients with Cancer of the Breast.” British Journal of Cancer 2, no. 2 (1948): 163–67.

Spitz, François. “Gene Regulation at a Distance: From Remote Enhancers to 3D Regulatory Ensembles.” Semi-nars in Cell & Developmental Biology 57 (2016): 57–67.

St Pourcain, Beate, et al. “ASD and Schizophrenia Show Distinct Developmental Profiles in Common Genetic Overlap with Population-Based Social Communication Difficulties.” Molecular Psychiatry 23, no. 2 (2018): 263–70

Stefen, Clara, et al. “Phenotyping in the Era of Genomics: MaTrics—A Digital Character Matrix to Document Mammalian Phenotypic Traits.” Mammalian Biology 102 (2022): 235–49.

Stevens, C. E., and Ian D. Hume. Comparative Physiology of the Vertebrate Digestive System. 2nd ed, paper-back. (Orig. published, 1988.) Cambridge, 2004 (1st ed., CH, Mar’89, 26-3895).

Sud, Amit, Clare Turnbull, and Richard Houlston. “Will Polygenic Risk Scores for Cancer Ever Be Clinically Useful?” npj Precision Oncology 5, article 40 (2021): 1–5 .

Valverde, Paloma, et al. “Variants of the Melanocyte-Stimulating Hormone Receptor Gene Are Associated with Red Hair and Fair Skin in Humans.” Nature Genetics 11, no. 3 (1995): 328–30.

Vickers, Andrew J., et al. “Polygenic Risk Scores to Stratify Cancer Screening Should Predict Mortality Not Incidence.” npj Precision Oncology 6, article 32 (2022): 1–6.

Weedon, Michael N., et al. “A Common Variant of HMGA2 Is Associated with Adult and Childhood Height in the General Population.” Nature Genetics 39, no. 10 (2007): 1245–50.

Westerband, A. C., J. L. Funk, and K. E. Barton. “Intraspecific Trait Variation in Plants: A Renewed Focus on Its Role in Ecological Processes.” Annals of Botany 127, no. 4 (2021): 397–410.

Worboys, Michael. The Invention of the Modern Dog: Breed and Blood in Victorian Britain. Johns Hopkins, 2022.

Yengo, Loïc, et al. “A Saturated Map of Common Genetic Variants Associated with Human Height.” Nature 610, (2022): 704–12.

Youssef, Noor, Aidan Budd, and Joseph P. Bielawski. “Introduction to Genome Biology and Diversity.” In Evolutionary Genomics: Statistical and Computational Methods, ed. by Maria Anisimova, 3–31. 2nd ed. Humana/Springer, 2019.

Zhang, Haoyu, et al. “Genome-Wide Association Study Identifies 32 Novel Breast Cancer Susceptibility Loci from Overall and Subtype-Specific Analyses.” Nature Genetics 52, no. 6 (2020): 572–81.

Zoonomia Consortium, “A Comparative Genomics Multitool for Scientific Discovery and Conservation.” Na-ture 587, no. 7833 (2020): 240–45.