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Biology subjects

Ash, J.

Publications and source records attributed to Ash, J..

3 recordsLinked to original sources

Model Validation Protocols for Machine Learning in Small Molecule Drug Discovery

Machine learning (ML) models for molecular property prediction are increasingly deployed in drug discovery, yet their adoption in real-world scenarios requires an understanding of the conditions in which a model succeeds or fails. While standardized benchmarks are powerful instruments to measure and unlock progress in ML research, they should not be blindly treated as the end goal. Especially static and retrospective benchmarks, in which no true unknown test set is employed, limit our ability to robustly validate a model's performance. Building on the collective expertise of a cross-industry consortium, we present a model validation framework consisting of five recommendations that would enable the community to move beyond aggregate metrics toward understanding where and why molecular property prediction models fail. We connect evaluation choices to real-world applications and case studies encountered in pharmaceutical research. The framework proposes splitting strategies that mimic realistic distribution shifts and expose common failure modes. We apply the recommended framework to a recently released dataset of absorption, distribution, metabolism, and excretion (ADME) properties. Across two complementary model algorithms, our case studies reveal four distinct failure modes (extrapolation, interpolation, representation, and evaluation), showing that model errors arise not only from distribution shift but also from limitations in molecular representations. Our results show that commonly used evaluation protocols can significantly overestimate performance and may not detect important model failure modes. All software and data are released via https://github.com/srijitseal/polaris.

bioinformatics↗

Comparative transcriptomic and epigenomic analysis identifies key regulators of injury response and neurogenic competence in retinal glia

Injury induces retinal Muller glia of cold-blooded, but not mammalian, vertebrates to regenerate neurons. To identify gene regulatory networks that control neuronal reprogramming in retinal glia, we comprehensively profiled injury-dependent changes in gene expression and chromatin accessibility in Muller glia from zebrafish, chick and mice using bulk RNA-Seq and ATAC-Seq, as well as single-cell RNA-Seq. Cross-species integrative analysis of these data, together with functional validation, identified evolutionarily conserved and species-specific gene networks controlling glial quiescence, gliosis and neurogenesis. In zebrafish and chick, transition from the resting state to gliosis is essential for initiation of retinal regeneration, while in mice a dedicated network suppresses neurogenic competence and restores quiescence. Selective disruption of NFI family transcription factors, which maintain and restore quiescence, enables Muller glia to proliferate and generate neurons in adult mice following retinal injury. These findings may aid in the design of cell-based therapies aimed at restoring retinal neurons lost to degenerative disease. Summary sentenceThis study identifies gene regulatory networks controlling proliferative and neurogenic competence in retinal Muller glia.

neuroscience↗

Joint analysis of gene expression levels and histological images identifies genes associated with tissue morphology

Histological images are used to identify and to characterize complex phenotypes such as tumor stage. Our goal is to associate histological image phenotypes with high-dimensional genomic markers; the limitations to incorporating histological image phenotypes in genomic studies are that the relevant image features are difficult to identify and extract in an automated way, and confounders are difficult to control in this high-dimensional setting. In this paper, we use convolutional autoencoders and sparse canonical correlation analysis (CCA) on histological images and gene expression levels from paired samples to find subsets of genes whose expression values in a tissue sample correlate with subsets of morphological features from the corresponding sample image. We apply our approach, ImageCCA, to three data sets, two from TCGA and one from GTEx v6, and we find three types of biological associations. In TCGA, we find gene sets associated with the structure of the extracellular matrix and cell wall infrastructure, implicating uncharacterized genes in extracellular processes. Across studies, we find sets of genes associated with specific cell types, including muscle tissue and neuronal cells, and with cell type proportions in heterogeneous tissues. In the GTEx v6 data, we find image features that capture population variation in thyroid and in colon tissues associated with genetic variants, suggesting that genetic variation regulates population variation in tissue morphological traits. The software is publicly available at: https://github.com/daniel-munro/imageCCA.

genomics↗