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View article: ClioMD: An artificial intelligence model for ciliopathies
ClioMD: An artificial intelligence model for ciliopathies Open
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 emergence of various developmental disorders resulting from defects…
View article: Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study
Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study Open
This study identified key pathogenic variants in hereditary cancer genes, with BRCA1 and BRCA2 mutations being the most prevalent. The findings reinforce the strong association between family history and hereditary cancer risk while indica…