bioRxiv Science⌕ Search

Biology subjects

Martin, E. J.

Publications and source records attributed to Martin, E. J..

5 recordsLinked to original sources

Nanopore- and AI-empowered metagenomic viability inference

The ability to differentiate between viable and dead microorganisms in metagenomic data is crucial for various microbial inferences, ranging from assessing ecosystem functions of environmental microbiomes to inferring the virulence of potential pathogens from metagenomic analysis. While established viability-resolved genomic approaches are labor-intensive as well as biased and lacking in sensitivity, we here introduce a new fully computational framework that leverages nanopore sequencing technology to assess microbial viability directly from freely available nanopore signal data. Our approach utilizes deep neural networks to learn features from such raw nanopore signal data that can distinguish DNA from viable and dead microorganisms in a controlled experimental setting of UV-induced Escherichia cell death. The application of explainable AI tools then allows us to pinpoint the signal patterns in the nanopore raw data that allow the model to make viability predictions at high accuracy. Using the model predictions as well as explainable AI, we show that our framework can be leveraged in a real-world application to estimate the viability of obligate intracellular Chlamydia, where traditional culture-based methods suffer from inherently high false negative rates. This application shows that our viability model captures predictive patterns in the nanopore signal that can be utilized to predict viability across taxonomic boundaries. We finally show the limits of our models generalizability through antibiotic exposure of a simple mock microbial community, where a new model specific to the killing method had to be trained to obtain accurate viability predictions. While the potential of our computational frameworks generalizability and applicability to metagenomic studies needs to be assessed in more detail, we here demonstrate for the first time the analysis of freely available nanopore signal data to infer the viability of microorganisms, with many potential applications in environmental, veterinary, and clinical settings. Author summaryMetagenomics investigates the entirety of DNA isolated from an environment or a sample to holistically understand microbial diversity in terms of known and newly discovered microorganisms and their ecosystem functions. Unlike traditional culturing of microorganisms, genomic approaches are not able to differentiate between viable and dead microorganisms since DNA might persist under different environmental circumstances. The viability of microorganisms is, however, of importance when making inferences about a microorganisms metabolic potential, a pathogens virulence, or an entire microbiomes impact on its environment. As existing viability-resolved genomic approaches are labor-intensive, expensive, and lack sensitivity, we here investigate our hypothesis if freely available nanopore sequencing signal dat that captures DNA molecule information beyond the DNA sequence might be leveraged to infer such viability. This hypothesis assumes that DNA from dead microorganisms accumulates certain damage signatures that reflect microbial viability and can be read from nanopore signal data using fully computational frameworks. We here show first evidence that such a computational framework might be feasible by training a deep model on controlled experimental data to predict viability at high accuracy, exploring what the model has learned, and using it in a real-world application by application to a bacterial species of veterinary relevance. We finally show that a specific model has to be trained to accurately predict viability after antibiotic exposure of a mock microbial community. While the generalizability of our computational framework therefore needs to be assessed in much more detail, we here demonstrate that freely available data might be usable for relevant viability inferences in environmental, veterinary, and clinical settings.

bioinformatics↗

Traumatic injury causes selective degeneration and TDP-43 mislocalization in human iPSC-derived C9orf72-associated ALS/FTD motor neurons

A hexanucleotide repeat expansion (HRE) in C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, patients with the HRE exhibit a wide disparity in clinical presentation and age of symptom onset suggesting an interplay between genetic background and environmental stressors. Neurotrauma, resulting from traumatic brain or spinal cord injury has been shown to increase the risk of ALS in epidemiological studies. Here, we combine patient-specific induced pluripotent stem cells (iPSCs) with a custom-built device to deliver biofidelic stretch trauma to C9orf72 patient and isogenic control motor neurons (MNs) in vitro. We find that mutant but not control MNs exhibit selective degeneration after a single incident of severe trauma, which can be partially rescued by pretreatment with a C9orf72 antisense oligonucleotide. A single incident of mild trauma does not cause degeneration but leads to cytoplasmic accumulation of TDP-43 in C9orf72 MNs. This mislocalization, which only occurs briefly in isogenic controls, is eventually restored in C9orf72 MNs after 6 days. Lastly, repeated mild trauma ablates the ability of patient MNs to recover. These findings highlight alterations in TDP-43 dynamics in C9orf72 ALS patient MNs following traumatic injury and demonstrate that neurotrauma compounds neuropathology in C9orf72 ALS. More broadly, our work establishes an in vitro platform that can be used to interrogate the mechanistic interactions between ALS and neurotrauma.

neuroscience↗

Compound activity prediction with dose-dependent transcriptomic profiles and deep learning

Predicting compound activity in assays is a long-standing challenge in drug discovery. Computational models based on compound-induced gene-expression signatures from a single profiling assay have shown promise towards predicting compound activity in other, seemingly unrelated, assays. Applications of such models include predicting mechanisms-of-action (MoA) for phenotypic hits, identifying off-target activities, and identifying polypharmacologies. Here, we introduce Transcriptomics-to-Activity Transformer (TAT) models that leverage gene-expression profiles observed over compound treatment at multiple concentrations to predict compound activity in other biochemical or cellular assays. We built TAT models based on gene-expression data from a RASL-Seq assay to predict the activity of 2,692 compounds in 262 dose response assays. We obtained useful models for 51% of the assays as determined through a realistic held-out set. Prospectively, we experimentally validated the activity predictions of a TAT model in a malaria inhibition assay. With a 63% hit rate, TAT successfully identified several sub-micromolar malaria inhibitors. Our results thus demonstrate the potential of transcriptomic responses over compound concentration and the TAT modeling framework as a cost-efficient way to identify the bioactivities of promising compounds across many assays.

bioinformatics↗

Early-Career Coordinated Distributed Experiments: Empowerment Through Collaboration

Coordinated distributed experiments (CDEs) enable the study of large-scale ecological patterns in geographically dispersed areas, while simultaneously providing broad academic and personal benefits for the participants. However, the effective involvement of early-career researchers (ECRs) presents major challenges. Here, we analyze the benefits and challenges of the first CDE exclusively led and conducted by ECRs (i.e. ECR-CDE), which sets a baseline for similar CDEs, and we provide recommendations for successful CDE execution. ECR-CDEs achieve most of the outcomes identified in conventional CDEs as well as extensive benefits for the young cohort of researchers, including: (i) receiving scientific credit, (ii) peer-training in new concepts and methods, (iii) developing leadership and communication skills, (iv) promoting a peer network among ECRs, and (v) building on individual engagement and independence. We also discuss the challenges of ECR-CDEs, which are mainly derived from the lack of independence and instability of the participants, and we suggest mechanisms to address them, such as resource re-allocation and communication strategies.

scientific communication and education↗

All-Assay-Max2 pQSAR: Activity predictions as accurate as 4-concentration IC50s for 8,558 Novartis assays

Profile-QSAR (pQSAR) is a massively multi-task, 2-step machine learning method with unprecedented scope, accuracy and applicability domain. In step one, a \"profile\" of conventional single-assay random forest regression (RFR) models are trained on a very large number of biochemical and cellular pIC50 assays using Morgan 2 sub-structural fingerprints as compound descriptors. In step two, a panel of PLS models are built using the profile of pIC50 predictions from those RFR models as compound descriptors. Hence the name. Previously described for a panel of 728 biochemical and cellular kinase assays, we have now built an enormous pQSAR from 11,805 diverse Novartis IC50 and EC50 assays. This large number of assays, and hence of compound descriptors for PLS, dictated reducing the profile by only including RFR models whose predictions correlate with the assay being modeled. The RFR and pQSAR models were evaluated with our \"realistically novel\" held-out test set whose median average similarity to the nearest training set member across the 11,805 assays was only 0.34, thus testing a realistically large applicability domain. For the 11,805 single-assay RFR models, the median correlation of prediction with experiment was only R2 ext=0.05, virtually random, and only 8% of the models achieved our standard success threshold of R2 ext=0.30. For pQSAR, the median correlation was R2 ext=0.53, comparable to 4-concentration experimental IC50s, and 72% of the models met our R2 ext>0.30 standard, totaling 8558 successful models. The successful models included assays from all of the 51 annotated target sub-classes, as well as 4196 phenotypic assays, indicating that pQSAR can be applied to virtually any disease area. Every month, all models are updated to include new measurements, and predictions are made for 5.5 million Novartis compounds, totaling 50 billion predictions. Common uses have included virtual screening, selectivity design, toxicity and promiscuity prediction, mechanism-of-action prediction, and others.

bioinformatics↗