The spectrum of gene intolerance to variation: Insights from a rare disease cohort Article Swipe
Pilar Cacheiro
,
Gabriel Marengo
,
David U. Gorkin
,
Kevin A. Peterson
,
Yonina Loskove
,
Stephen A. Murray
,
Damian Smedley
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1101/2025.01.28.25321201
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1101/2025.01.28.25321201
Deciphering the spectrum of intolerance to loss-of-function (LoF) variation helps identify genes that are critical at various stages of development and hierarchical levels of organisation. We have previously combined cell and mouse viability screens for single-gene knockouts, to summarise this spectrum into discrete categories, Full Spectrum of Intolerance to Loss-of-function (FUSIL), from genes essential for cell proliferation to those where LoF has no phenotypic impact. Here, we expand on this analysis to uncover distinct patterns in gene expression across developmental stages in both mouse and human within these categories, as well as gene sequence and evolutionary features, protein functional classes, and disease associations. Further, by analysing data from diagnosed patients in a rare disease cohort, we gain insights into the relationships between variant de novo status, molecular consequence, mode of inheritance, and type of disorder in the FUSIL categories. These associations facilitate the identification of predicted pathogenic variants in genes not currently linked to Mendelian conditions.
Related Topics
Concepts
Mendelian inheritance
Gene
Genetics
Biology
Phenotype
Loss function
Disease
OMIM : Online Mendelian Inheritance in Man
Function (biology)
Inheritance (genetic algorithm)
Computational biology
Medicine
Pathology
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2025.01.28.25321201
- OA Status
- green
- Cited By
- 2
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4406940481
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4406940481Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2025.01.28.25321201Digital Object Identifier
- Title
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The spectrum of gene intolerance to variation: Insights from a rare disease cohortWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-01-29Full publication date if available
- Authors
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Pilar Cacheiro, Gabriel Marengo, David U. Gorkin, Kevin A. Peterson, Yonina Loskove, Stephen A. Murray, Damian SmedleyList of authors in order
- Landing page
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https://doi.org/10.1101/2025.01.28.25321201Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.ncbi.nlm.nih.gov/pmc/articles/11996589Direct OA link when available
- Concepts
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Mendelian inheritance, Gene, Genetics, Biology, Phenotype, Loss function, Disease, OMIM : Online Mendelian Inheritance in Man, Function (biology), Inheritance (genetic algorithm), Computational biology, Medicine, PathologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2Per-year citation counts (last 5 years)
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.Spectrum | 45 |
| abstract_inverted_index.analysis | 70 |
| abstract_inverted_index.classes, | 99 |
| abstract_inverted_index.combined | 28 |
| abstract_inverted_index.critical | 14 |
| abstract_inverted_index.discrete | 42 |
| abstract_inverted_index.disorder | 134 |
| abstract_inverted_index.distinct | 73 |
| abstract_inverted_index.identify | 10 |
| abstract_inverted_index.insights | 117 |
| abstract_inverted_index.patients | 109 |
| abstract_inverted_index.patterns | 74 |
| abstract_inverted_index.sequence | 93 |
| abstract_inverted_index.spectrum | 2, 40 |
| abstract_inverted_index.variants | 147 |
| abstract_inverted_index.Mendelian | 154 |
| abstract_inverted_index.analysing | 105 |
| abstract_inverted_index.currently | 151 |
| abstract_inverted_index.diagnosed | 108 |
| abstract_inverted_index.essential | 53 |
| abstract_inverted_index.features, | 96 |
| abstract_inverted_index.molecular | 126 |
| abstract_inverted_index.predicted | 145 |
| abstract_inverted_index.summarise | 38 |
| abstract_inverted_index.variation | 8 |
| abstract_inverted_index.viability | 32 |
| abstract_inverted_index.expression | 77 |
| abstract_inverted_index.facilitate | 141 |
| abstract_inverted_index.functional | 98 |
| abstract_inverted_index.knockouts, | 36 |
| abstract_inverted_index.pathogenic | 146 |
| abstract_inverted_index.phenotypic | 63 |
| abstract_inverted_index.previously | 27 |
| abstract_inverted_index.Deciphering | 0 |
| abstract_inverted_index.Intolerance | 47 |
| abstract_inverted_index.categories, | 43, 88 |
| abstract_inverted_index.categories. | 138 |
| abstract_inverted_index.conditions. | 155 |
| abstract_inverted_index.development | 19 |
| abstract_inverted_index.intolerance | 4 |
| abstract_inverted_index.single-gene | 35 |
| abstract_inverted_index.associations | 140 |
| abstract_inverted_index.consequence, | 127 |
| abstract_inverted_index.evolutionary | 95 |
| abstract_inverted_index.hierarchical | 21 |
| abstract_inverted_index.inheritance, | 130 |
| abstract_inverted_index.associations. | 102 |
| abstract_inverted_index.developmental | 79 |
| abstract_inverted_index.organisation. | 24 |
| abstract_inverted_index.proliferation | 56 |
| abstract_inverted_index.relationships | 120 |
| abstract_inverted_index.identification | 143 |
| abstract_inverted_index.Loss-of-function | 49 |
| abstract_inverted_index.loss-of-function | 6 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 95 |
| countries_distinct_count | 0 |
| institutions_distinct_count | 7 |
| citation_normalized_percentile.value | 0.93728335 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |