Motivation Although recent deep learning models have achieved promising results on read-level classification tasks, their robustness to realistic sequencing conditions, sensitivity to read length, and ability to support reliable genome-level inference remain incompletely characterized. Here, we present PathoBERT, a hyb...
Salem A. El-aarag, Mario A. Flores, M. E. Hasan et al.· bioRxiv· 0 citations
PIWI-associated RNAs (piRNAs) are a diverse and abundant class of small regulatory non-coding RNAs that play central roles in genome regulation and transposon silencing. First identified in germline cells, piRNAs are now also implicated in somatic cell function, stem cell maintenance, immunity, and human disease, parti...
Eman M. Ibrahim, Mariam Hossam El Dine, Hatem Zayed et al.· International Journal of Bio...· 0 citations
As the first genetic study of hypertrophic cardiomyopathy in an Egyptian population, this work expands the global mutational spectrum, demonstrates the utility of genetic testing for risk stratification and personalised management, and underscores the need to diversify genomic datasets for equitable precision medicine.
Rana E Negm, R. Gabre, A. A. El‐Sherif et al.· Cardiology in the Young· 0 citations
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