A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
Open accessAbstract
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
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Better molecular diagnostics are needed to reliably detect some genetic disorders, including those caused by triplet repeats and complex rearrangements.
“However, improved molecular diagnostics are required to ensure reliable detection of a subset of genetic disorders, including those arising from triplet repeats and complex rearrangements138.”
From A brief history of human disease genetics (2020) · cites this paper as [138]
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References 15 · Cited by 177
- Authors
- Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., Mackay, D., Temple, I. K., Visel, A., & Baynam, G.
- Affiliations
- University of Ottawa (CA)
- National Human Genome Research Institute (US)
- Baylor College of Medicine (US)
- University of Calgary (CA)
- University of Tübingen (DE)
- Victor Chang Cardiac Research Institute (AU)
- The Kids Research Institute Australia (AU)
- University of Southampton (GB)
- Lawrence Berkeley National Laboratory (US)
- The University of Western Australia (AU)
- Corresponding author
- Boycott, Kym M.
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2019-03
- Volume
- 177
- Issue
- 1
- Pages
- 32-37
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2922939447
- Cited by
- 177
- References
- 15
- Citations by year
- 2026: 16 · 2025: 20 · 2024: 29 · 2023: 35 · 2022: 22 · 2021: 27 · 2020: 26 · 2019: 2
- FWCI
- 11.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- European FP7 (305207)
- Genome Canada
- CIHR (OGI-0147, FDN-154279)
- European Union Horizon 2020 Program (779257)
- National Human Genome Research Institute
- NHMRC (ID1135886)
- National Institutes of Health (R24HL123879, UM1HL098166, UM1HG009421, U01DE024427)
- Angela Wright Bennett Foundation
- McCusker Charitable Foundation
- Roy Hill Community Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- rare genetic disorders, exome sequencing, diagnosis, genetic diagnosis, disease mechanisms, translational research, precision medicine
- MeSH terms
- Exome Sequencing, Genetic Testing, Humans, Genome, Human, Sequence Analysis, DNA, Rare Diseases, Translational Research, Biomedical, High-Throughput Nucleotide Sequencing, Exome
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