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Giang Pham

Publications and source records attributed to Giang Pham.

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Efficient Shapley values computation for Boolean network models of gene regulation

Identifying dynamically influential nodes in biological networks is a central problem in systems biology, particularly for prioritizing intervention targets in gene regulatory networks. In this paper, we propose a Shapley-value-based framework for assessing the importance of nodes in a Boolean network with respect to a given target node. The framework comprises two complementary measures: the Knock-out and the Knock-in Shapley values. Moreover, we present a propagation-based method that enables their efficient computation. By exploiting the logical structure of the network, the method avoids exhaustive simulations. The approach is exact for acyclic networks and provides good approximations for cyclic networks. Evaluation on benchmark models from the Cell Collective database shows that the propagation method accurately recovers node importance rankings while achieving substantial speed-ups.

q-bio.MN

Knowledge Graph Extraction from Biomedical Literature for Alkaptonuria Rare Disease

Alkaptonuria (AKU) is an ultra-rare autosomal recessive metabolic disorder caused by mutations in the HGD (Homogentisate 1,2-Dioxygenase) gene, leading to a pathological accumulation of homogentisic acid (HGA) in body fluids and tissues. This leads to systemic manifestations, including premature spondyloarthropathy, renal and prostatic stones, and cardiovascular complications. Being ultra-rare, the amount of data related to the disease is limited, both in terms of clinical data and literature. Knowledge graphs (KGs) can help connect the limited knowledge about the disease (basic mechanisms, manifestations and existing therapies) with other knowledge; however, AKU is frequently underrepresented or entirely absent in existing biomedical KGs. In this work, we apply a text-mining methodology based on PubTator3 for large-scale extraction of biomedical relations. We construct two KGs of different sizes, validate them using existing biochemical knowledge and use them to extract genes, diseases and therapies possibly related to AKU. This computational framework reveals the systemic interactions of the disease, its comorbidities, and potential therapeutic targets, demonstrating the efficacy of our approach in analyzing rare metabolic disorders.

cs.AI