Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge Article Swipe
Maria Cristina Aspromonte
,
Alessio Del Conte
,
Roberta Polli
,
Demetrio Baldo
,
Francesco Benedicenti
,
Elisa Bettella
,
Stefania Bigoni
,
Stefania Boni
,
Claudia Ciaccio
,
Stefano D’Arrigo
,
Ilaria Donati
,
Elisa Granocchio
,
Isabella Mammi
,
Donatella Milani
,
Susanna Negrin
,
Margherita Nosadini
,
Fiorenza Soli
,
Franco Stanzial
,
Licia Turolla
,
Damiano Piovesan
,
Silvio C. E. Tosatto
,
Alessandra Murgia
,
Emanuela Leonardi
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s00439-025-02733-1
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1007/s00439-025-02733-1
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data. In this study, a targeted gene panel sequencing has been used to investigate the genetic causes of NDDs in a cohort of 415 paediatric patients. We identified 60 pathogenic and 49 likely pathogenic variants in 102 individuals that accounted for 25% of NDD cases in the cohort. The most mutated genes were ANKRD11, MECP2, ARID1B, ASH1L, CHD8, KDM5C, MED12 and PTCHD 1 The majority of pathogenic variants were de novo, with some inherited from mildly affected parents. Loss-of-function variants were the most common type of pathogenic variant. In silico analysis tools were used to assess the potential impact of variants on splicing and structural/functional effects of missense variants. The study highlights the challenges in variant interpretation especially in cases with atypical phenotypic manifestations. Overall, this study provides valuable insights into the genetic causes of NDDs and emphasises the importance of understanding the underlying genetic factors for accurate diagnosis, and intervention development in neurodevelopmental conditions.
Related Topics
Concepts
Intellectual disability
Biology
Genetic heterogeneity
Human genetics
Autism
Genetics
In silico
Phenotype
Genetic architecture
Precision medicine
Computational biology
Gene
Medicine
Psychiatry
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s00439-025-02733-1
- https://link.springer.com/content/pdf/10.1007/s00439-025-02733-1.pdf
- OA Status
- hybrid
- Cited By
- 2
- References
- 55
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4408052761
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4408052761Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1007/s00439-025-02733-1Digital Object Identifier
- Title
-
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-02-28Full publication date if available
- Authors
-
Maria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Stefania Boni, Claudia Ciaccio, Stefano D’Arrigo, Ilaria Donati, Elisa Granocchio, Isabella Mammi, Donatella Milani, Susanna Negrin, Margherita Nosadini, Fiorenza Soli, Franco Stanzial, Licia Turolla, Damiano Piovesan, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela LeonardiList of authors in order
- Landing page
-
https://doi.org/10.1007/s00439-025-02733-1Publisher landing page
- PDF URL
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https://link.springer.com/content/pdf/10.1007/s00439-025-02733-1.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://link.springer.com/content/pdf/10.1007/s00439-025-02733-1.pdfDirect OA link when available
- Concepts
-
Intellectual disability, Biology, Genetic heterogeneity, Human genetics, Autism, Genetics, In silico, Phenotype, Genetic architecture, Precision medicine, Computational biology, Gene, Medicine, PsychiatryTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2Per-year citation counts (last 5 years)
- References (count)
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55Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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