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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Open accessAbstract
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function, gene regulation, development, and biological mechanisms that can be used for developing new therapeutics. As of February 2015, 2,937 genes underlying 4,163 Mendelian phenotypes have been discovered, but the genes underlying ∼50% (i.e., 3,152) of all known Mendelian phenotypes are still unknown, and many more Mendelian conditions have yet to be recognized. This is a formidable gap in biomedical knowledge. Accordingly, in December 2011, the NIH established the Centers for Mendelian Genomics (CMGs) to provide the collaborative framework and infrastructure necessary for undertaking large-scale whole-exome sequencing and discovery of the genetic variants responsible for Mendelian phenotypes. In partnership with 529 investigators from 261 institutions in 36 countries, the CMGs assessed 18,863 samples from 8,838 families representing 579 known and 470 novel Mendelian phenotypes as of January 2015. This collaborative effort has identified 956 genes, including 375 not previously associated with human health, that underlie a Mendelian phenotype. These results provide insight into study design and analytical strategies, identify novel mechanisms of disease, and reveal the extensive clinical variability of Mendelian phenotypes. Discovering the gene underlying every Mendelian phenotype will require tackling challenges such as worldwide ascertainment and phenotypic characterization of families affected by Mendelian conditions, improvement in sequencing and analytical techniques, and pervasive sharing of phenotypic and genomic data among researchers, clinicians, and families.
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Metadata
- Authors
- Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover-Fong, J., Mathews, D., Witmer, P. D., Ling, H., Hetrick, K., Watkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A., & Bamshad, M. J.
- Affiliations
- University of Washington (US)
- Baylor College of Medicine (US)
- Johns Hopkins University (US)
- Yale University (US)
- Howard Hughes Medical Institute (US)
- Seattle Children's Hospital (US)
- Corresponding author
- Bamshad, Michael J.
- ORCID
- Chong, Jessica X.
- Buckingham, Kati J.
- Jhangiani, Shalini N.
- Sobreira, Nara
- Smith, Joshua D.
- Wiszniewski, Wojciech
- Gambin, Tomasz
- Doheny, Kimberly
- Scott, Alan F.
- Chakravarti, Aravinda
- Hoover-Fong, Julie
- Mathews, Debra
- Witmer, P. Dane
- Hetrick, Kurt
- Patterson, Karynne E.
- Blue, Elizabeth
- Muzny, Donna
- Kircher, Martin
- Sutton, V. Reid
- Tabor, Holly K.
- Leal, Suzanne M.
- Mane, Shrikant
- Gibbs, Richard A.
- Boerwinkle, Eric
- Hamosh, Ada
- Shendure, Jay
- Lupski, James R.
- Lifton, Richard P.
- Valle, David
- Nickerson, Deborah A.
- Bamshad, Michael J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2015-08
- Volume
- 97
- Issue
- 2
- Pages
- 199-215
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC4573249
- OpenAlex
- W1701211704
- Cited by
- 643
- References
- 107
- Citations by year
- 2026: 16 · 2025: 18 · 2024: 33 · 2023: 38 · 2022: 59 · 2021: 70 · 2020: 72 · 2019: 90 · 2018: 84 · 2017: 83 · 2016: 67 · 2015: 11
- FWCI
- 10.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- National Human Genome Research Institute (HG006493, U54HG006504, U54HG006542, UM1HG006504, HG006504, U54HG006493, UM1HG006542, HG006542, UM1HG006493)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- genetic basis of disease, exome sequencing, gene discovery, carrier screening, mass screening, phenotypic variability, data sharing, gene function
- MeSH terms
- Genetics, Medical, Humans, Phenotype, Proteins, Genetic Diseases, Inborn
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