bioRxiv Science⌕ Search

Biology subjects

Giske, C. G.

Publications and source records attributed to Giske, C. G..

2 recordsLinked to original sources

Structure-informed Siamese graph neural networks classify CirA missense variants with implications for cefiderocol susceptibility

Cefiderocol uptake in Enterobacterales depends partly on TonB-dependent catecholate transporters, including CirA, yet the functional interpretation of CirA missense variation remains limited by an absence of large experimental phenotype datasets. Here we describe a structure-informed Siamese graph neural network (GNN) framework designed to prioritise CirA missense variants that are likely to impair transporter function and thereby contribute to reduced cefiderocol susceptibility. Because large experimental datasets of CirA missense phenotypes are not available, we trained the model on a synthetic mutant set generated from structurally motivated rules applied to the CirA reference structure (AlphaFold model, UniProt P17315). Each residue was represented using protein language model embeddings, backbone geometry, and amino-acid identity, and paired wild-type and mutant graphs were compared through a shared encoder. On synthetic held-out benchmarks, the model achieved strong classification performance on a position-held-out split (macro-F1 = 0.989 against synthetic labels). Applied to a collection of Escherichia coli CirA protein sequences, the framework prioritised a subset of variants as high-confidence non-benign candidates and assigned many others to review or abstain categories, reflecting predictive uncertainty outside the synthetic training distribution. A post-hoc severity-ranking scheme triages disruptive candidates for follow-up. This framework demonstrates that structure-informed synthetic data generation paired with Siamese GNN inference can bridge the gap between sequence-level genomic surveillance and mechanistic functional prediction of outer-membrane transporter variants.

bioinformatics↗

Network-based multi-omics integration reveals metabolic risk profile within treated HIV-infection

Multiomics technologies improve the biological understanding of health status in people living with HIV on antiretroviral therapy (PLWHART). Still, a systematic and in-depth characterization of metabolic risk profile during successful long-term treatment is lacking. Here, we used multi-omics (plasma lipidomic and metabolomic, and fecal 16s microbiome) data-driven stratification and characterization to identify the metabolic at-risk profile within PLWHART. Through network analysis and similarity network fusion (SNF), we identified three groups of PLWHART (SNF-1 to 3). The PLWHART at SNF-2 (45%) was a severe at-risk metabolic profile with increased visceral adipose tissue, BMI, higher incidence of metabolic syndrome (MetS), and increased di- and triglycerides despite having higher CD4+ T-cell counts than the other two clusters. However, the healthy-like and severe at-risk group had a similar metabolic profile differing from HC, with dysregulation of amino acid metabolism. At the microbiome profile, the healthy-like group had a lower -diversity, a lower proportion of MSM, and was enriched in Bacteroides. In contrast, in at-risk groups, there was an increase in Prevotella, with a high proportion of men who have sex with men (MSM) confirming the influence of sexual orientation on the microbiome profile The multi-omics integrative analysis reveals a complex microbial interplay by microbiome-derived metabolites in PLWHART. PLWHART those are severely at-risk clusters may benefit from personalized medicine and lifestyle intervention to improve their metabolic profile. SignificanceThe network and factorization-based integrative analysis of plasma metabolomics, lipidomics, and microbiome profile identified three different diseases state -omics phenotypes within PLWHART driven by metabolomics, lipidomics, and microbiome that a single omics or clinical feature could not explain. The severe at-risk group has a dysregulated metabolic profile that potentiates metabolic diseases that could be barriers to healthy aging. The at-risk group may benefit from personalized medicine and lifestyle intervention to improve their metabolic profile.

bioinformatics↗