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Solovyeva, E.

Publications and source records attributed to Solovyeva, E..

4 recordsLinked to original sources

Single Cell Foundation Models Evaluation (scFME) for In-Silico Perturbation

Foundation models pre-trained on large single-cell RNA atlases offer a compelling alternative to in-vitro experimentation for understanding gene regulatory networks and conducting gene perturbation analyses, with significant implications for target identification. Numerous foundation models have been developed, building upon early efforts such as Geneformer and scGPT. Hyperparameter optimization also results in multiple variants which require comparative analysis. Current benchmarking approaches focus on feature-based assessments or intuitive biological and statistical tasks, which may not align with the models training objectives. A recent study proposed a systematic benchmarking framework; however, its scope was limited to pre-trained (zero-shot) models. To address these limitations, we propose Single-Cell Foundation Model Evaluation (scFME)--a systematic method designed to benchmark fine-tuned foundation models for insilico perturbation (ISP). scFME ensures comprehensive and robust assessment by requiring sufficient separation between control and perturbed cells at the outset and by quantifying ISP accuracy against zero and random perturbation baselines. Furthermore, scFME enables exploration of model performance across distinct gene categories, facilitating biological interpretation and functional relevance. Using this framework, we evaluated several commonly used models (and some of their variants) and demonstrated that the methodology effectively characterizes their performance in ISP studies. Our results position scFME as a versatile and rigorous methodology for evaluating and comparing current and future foundation models.

bioinformatics↗

Specificity and exon target space of splicing modifying compounds

Modulation of splicing has become an established therapeutic strategy, with proven clinical applications and continued potential to target specific exons to influence gene expression. Recent advancements led to the identification of small molecule splicing modifiers such as Risdiplam and Branaplam. These compounds induce the inclusion of exons that are typically skipped due to their weak 5' splice site. While Risdiplam has a preference to induce exons with a N-3G-2A-1 sequence at the 3' exon end, Branaplam has a proclivity towards introducing A-3G-2A-1 -ending exons. However, the variables that determine the selectivity and specificity of splicing modulators are still not completely understood, as evidenced by the hundreds of unaffected N-3G-2A-1 -ending exons present in the human genome. In this study, we delve into the molecular mechanisms governing the specificity of splicing-modifying compounds, focusing on their interactions with RNA structures at splice sites. Using biochemical assays, whole transcriptome analyses, and genetic perturbation approaches, our findings reveal contributions of primary sequence codependencies that help determine the required secondary structural conformation, thus governing responsiveness to splicing modulator induction. Based on these learnings, we were able to reprogram the specificity of splicing modulators by genetic manipulation of the U1 snRNA component of the spliceosome. Our findings further the understanding of splicing modulators and might help to identify new targets and compounds.

molecular biology↗

Evaluating Foundation Models for In-Silico Perturbation

In-silico perturbation (ISP) offers a scalable alternative to traditional gene perturbation experiments, yet evaluation of foundation models for ISP remains underexplored. We introduce a novel evaluation framework, the single cell in-silico perturbation framework (scISP), to benchmark ISP models against in-vitro experimental data using biologically meaningful metrics, including cell state separation accuracy, ISP accuracy, and mean reciprocal rank (MRR) for predicting perturbed genes. Complementary functional analyses evaluate model performance across diverse gene categories. Using scISP, we assess two well-known pre-trained foundation models, Geneformer and scGPT, alongside the deep learning model, GEARS, highlighting their respective strengths and limitations in simulating cell state transitions and identifying perturbed genes. These analyses reveal intrinsic differences across models, offering opportunities to optimize foundation models for specific biological contexts or gene categories. Our extensible framework establishes a robust bridge between computational predictions and experimental validation, advancing gene perturbation research and biological discovery.

bioinformatics↗

A proteomics sample metadata representation for multiomics integration, and big data analysis.

The amount of public proteomics data is increasing at an extraordinary rate. Hundreds of datasets are submitted each month to ProteomeXchange repositories, representing many types of proteomics studies, focusing on different aspects such as quantitative experiments, post-translational modifications, protein-protein interactions, or subcellular localization, among many others. For every proteomics dataset, two levels of data are captured: the dataset description, and the data files (encoded in different file formats). Whereas the dataset description and data file formats are supported by all ProteomeXchange partner repositories, there is no standardized format to properly describe the sample metadata and their relationship with the dataset files in a way that fully allows their understanding or re-analysis. It is left to the users choice whether to provide or not an ad hoc document containing this information. Therefore, in many cases, understanding the study design and data requires going back to the associated publication. This can be tedious and may be restricted in the case of non-open access publications. In many cases, this problem limits the generalization and reuse of public proteomics data. Here we present a standard representation for sample metadata tailored to proteomics datasets produced by the HUPO Proteomics Standards Initiative and supported by ProteomeXchange resources. We repurposed the existing data format MAGE-TAB used routinely in the transcriptomics field to represent and annotate proteomics datasets. MAGETAB-Proteomics defines a set of annotation rules that the datasets submitted to ProteomeXchange should follow, ranging from sample properties to data analysis protocols. We also introduce a crowdsourcing project that enabled the manual curation of over 200 public datasets using MAGE-TAB-Proteomics. In addition, we describe an ecosystem of tools and libraries that were developed to validate and submit sample metadata-related information to ProteomeXchange. We expect that these tools will improve the reproducibility of published results and facilitate the reanalysis and integration of public proteomics datasets.

bioinformatics↗