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Biology subjects

Alsafar, H.

Publications and source records attributed to Alsafar, H..

2 recordsLinked to original sources

BfBio: a graph-based tool for the prediction of Angiogenic Stalk Cell genes using a Personalized PageRank algorithm

Although most human protein coding genes have functional annotations in databases, such as GeneCards, many remain poorly characterized. To address this gap, computational tools can be leveraged to predict the functional roles of under-annotated genes by extracting patterns from complex biological networks. Here we introduce Brain-for-Biotech (BfBio), a framework designed to identify genes important for vascular endothelial cells (EC), which are crucial cells for vessel formation (angiogenesis), vascular homeostasis, hemostasis and blood/tissue barrier function but also critical mediators of immunity and cancer progression. BfBio utilizes a Personalized PageRank (PPR) algorithm on an integrated network of different omics datasets and publicly available gene-gene/protein-protein interaction databases. In this study, we apply the predictive capabilities of BfBio to infer angiogenic stalk cell phenotype function in genes for which this function was not known before. By leveraging a set of genes characterizing the stalk cell cluster in lung tumor EC models previously identified, we have achieved a high Area Under Receiver Operative Characteristic (AUC-ROC) performance (0.837). Enrichment analysis, coupled with a text mining application, further confirmed that among the 49 predicted genes four of them were poorly characterized yet possessed biologically relevant properties and were linked to cancer, thereby validating BfBio as a robust tool for prioritizing novel therapeutic targets in vascular biology.

cancer biology↗

An Emirati pangenome incorporating a diploid telomere-to-telomere reference

Reference data on genomic variation form the basis of genetic research. Limitations in identifying genetic variation from single reference sequences have been recently overcome, as improvements in sequencing technologies have allowed the generation of pangenomic references from multiple accurate, chromosome-level de novo assemblies. Here, we present a comprehensive Emirati telomere-to-telomere (T2T) pangenome generated from 58 individuals, comprising 28 trio-based and 30 single-sample assemblies. The resulting 116 haplotype-resolved assemblies demonstrate high contiguity, with a median continuity of 150 Mb and a median quality value (QV) of 59, achieving T2T-level scaffold status for 71.9% of chromosomes. These assemblies form the foundation of the Emirati T2T pangenome graph. The graph reveals levels of genomic diversity comparable to those reported by the Human Pangenome Reference Consortium, while also capturing regionally enriched and difficult-to-assemble variation, uniquely accessible through the Emirati T2T assemblies. This reference makes a valuable global contribution to human pangenomics and serves as a critical resource for advancing precision medicine in the United Arab Emirates.

genomics↗