CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
2024 · Genome biology · 54 citations
https://doi.org/10.1186/s13059-023-03113-6
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Elisa Bettella
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Elisa Bettella is an academic researcher from University of Padua. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Autism Spectrum Disorder Research. The author has an h-index of 15, co-authored 24 publications.
Papers by this author
worksSomatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance
2024 · International Journal of Molecular Sciences · 4 citations
https://doi.org/10.3390/ijms252413681
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
2025 · Human Genetics · 3 citations
https://doi.org/10.1007/s00439-025-02733-1
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