Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
Open accessAbstract
Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects of cilia structure and function, caused by a range of different inherited mutations found in more than 150 different genes. Genetic analysis has rapidly advanced our understanding of the cell biological basis of ciliopathies over the past two decades, with more recent technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched in 2012 in the UK to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS). In this review we discuss the potential promise and medical impact of WGS for ciliopathies and report on current progress of the 100,000 Genomes Project, reviewing the medical, technical and ethical challenges and opportunities that new, large scale initiatives such as this can offer.
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Genomic analysis as part of the 100KGP revealed biallelic rare protein-altering variants affecting CFAP20 in only 4/70,000 individuals.
“Potentially consistent with this notion, genomic analysis as part of the 100KGP92 revealed biallelic rare protein-altering variants affecting CFAP20 in only 4/70,000 individuals.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [92]
The 'Ciliopathy Genomics Data Analysis in the 100,000 Genomes Project' section describes variant classification and gives counts for groups of ciliopathy probands, but not for CFAP20. Searches for CFAP20 and for four individuals among 70,000 found no passage reporting the claimed result. (LLM, conf=0.76)
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References 157 · Cited by 99
Research works printed but not linked: 3
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- Authors
- Wheway, G., Genomics England Research Consortium, & Mitchison, H. M.
- Affiliations
- Southampton General Hospital (GB)
- University College London (GB)
- Corresponding author
- Mitchison, Hannah M.
- Venue
- Frontiers in Genetics
- Publisher
- Frontiers Media SA
- Published
- 2019-03-11
- Volume
- 10
- Pages
- 127-127
- ISSN
- 1664-8021 (ISSN-L)
- PMC
- PMC6421331
- OpenAlex
- W2921301329
- Cited by
- 99
- References
- 157
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 8 · 2023: 13 · 2022: 21 · 2021: 29 · 2020: 8 · 2019: 5
- FWCI
- 2.11
- Type
- journal article
- Language
- en
- Update notices
- corrigendum (2019-08-13)
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (acceptedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- UCL Discovery (University College London) (submittedVersion)
- Queen Mary Research Online (Queen Mary University of London) (submittedVersion, cc-by)
- Funders
- Wellcome Trust
- Great Ormond Street Hospital Charity
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Keywords
- ciliopathies, 100,000 Genomes Project, whole genome sequencing, rare diseases, cilia, inherited mutations, genetic diagnosis, genomics, bioethics
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