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Leblanc, F. J. A.

Publications and source records attributed to Leblanc, F. J. A..

2 recordsLinked to original sources

Deep Learning-Based Genetic Perturbation Models Do Outperform Uninformative Baselines on Well-Calibrated Metrics

Single cell genetic perturbation modeling involves predicting the effects of unobserved genetic manipulations, enabling scalable in silico screens for target discovery. Recent reports have claimed that deep learning-based perturbation models fail to outperform uninformative baselines, raising doubts about their utility. Here, we show that these conclusions largely stem from limitations of benchmarking metrics, not from the models themselves. We introduce a framework for evaluating bench-mark metric calibration using positive and negative controls, including a new positive control baseline (the interpolated duplicate) and a quantitative calibration measure (the dynamic range fraction). Across 14 perturbation datasets and 13 evaluation metrics, we find that conventional metrics such as mean squared error (MSE) and control-referenced delta correlation (Pearson({Delta}ctrl)) are often poorly calibrated, whereas weighted and rank-based alternatives exhibit consistent calibration. Under well-calibrated metrics, deep learning models outperform mean, control, and linear baselines, and in some cases even surpass the additive baseline in combination-prediction tasks. Calibrated evaluation thus explains prior reports of model underperformance, revealing that deep learning models do outperform uninformative baselines.

bioinformatics↗

Transcriptomic profiling of atrial fibrillation canine models at disease onset

BackgroundAtrial fibrillation (AF), the most common sustained arrhythmia, is associated with increased morbidity, mortality, and health-care costs. AF develops over many years and is often related to substantial atrial structural and electrophysiological remodeling. AF may lack symptoms at onset and atrial biopsy samples are generally obtained in subjects with advanced disease, so it is difficult to study earlier-stage pathophysiology in humans. MethodsHere, we characterized comprehensively the transcriptomic (miRNAseq and mRNAseq) changes in the left atria of two robust canine AF-models after one week of electrically-maintained AF, without or with ventricular rate-control via atrioventricular node-ablation/ventricular pacing. ResultsOur RNA-sequencing experiments identified thousands of genes that are differentially expressed, including a majority that have never before been implicated in AF. Gene-set enrichment analyses highlighted known (e.g. extracellular matrix structure organization) but also many novel pathways (e.g. muscle structure development, striated muscle cell differentiation) that may play a role in tissue remodeling and/or cellular transdifferentiation. Of interest, we found dysregulation of a cluster of non-coding RNAs, including many microRNAs but also the MEG3 long non-coding RNA orthologue, located in the syntenic region of the imprinted human DLK1-DIO3 locus. Interestingly (in the light of other recent observations), our analysis identified gene-targets of differentially expressed microRNAs at the DLK1-DIO3 locus implicating glutamate signaling in AF pathophysiology. ConclusionsOur results capture molecular events that occur at an early stage of disease development using well-characterized animal models, and may therefore inform future studies that aim to further dissect the causes of AF in humans.

genomics↗