Biology subjects

Ambite, J. L.

Publications and source records attributed to Ambite, J. L..

7 recordsLinked to original sources

bioRxiv2025

Generating diffusion MRI scalar maps from T1-weighted images using Reversible GANs

Diffusion tensor imaging (DTI) provides valuable insights into brain tissue microstructure, but acquiring high-quality DTI data is time-intensive and not always feasible. To mitigate data scarcity and enhance accessibility, we investigate the generation of synthetic DTI scalar maps--specifically mean diffusivity (MD)--from structural 3D volumetric T1-weighted brain MRI using a reversible generative adversarial network (RevGAN). Unlike conventional pipelines requiring multiple steps, our approach enables a single-step translation from T1 to diffusion-derived measures. We assess the quality and utility of the synthetic maps in two downstream tasks: sex classification and Alzheimers disease classification. Performance comparisons between models trained on real and synthetic DTI maps demonstrate that RevGAN-generated images retain meaningful microstructural features and offer competitive accuracy, underscoring their potential for data augmentation and analysis in neuroimaging workflows. We also examine how well models trained on these data generalize to a new population dataset from India (NIMHANS cohort).

neuroscience↗

bioRxiv2025

Synthetic Diffusion Tensor Imaging Maps Generated by 2D and 3D Probabilistic Diffusion Models: Evaluation and Applications

Diffusion tensor imaging (DTI) is a key neuroimaging modality for assessing brain tissue microstructure, yet high-quality acquisitions are costly, time-intensive, and prone to artifacts. To address data scarcity and privacy concerns - and to augment the available data for training deep learning methods - synthetic DTI generation has gained interest. Specifically, denoising diffusion probabilistic models (DDPMs) have emerged as a promising approach due to their superior fidelity, diversity, controllability, and stability compared to generative adversarial networks (GANs) and variational autoencoders (VAEs). In this work, we evaluate the quality, fidelity and added value for downstream applications of synthetic DTI mean diffusivity (MD) maps generated by 2D slice-wise and 3D volume-wise DDPMs. We evaluate their computational efficiency and utility for data augmentation in two downstream tasks: sex classification and dementia classification using 2D and 3D convolutional neural networks (CNNs). Our findings show that 3D synthesis outperforms 2D slice-wise generation in downstream tasks. We present a benchmark analysis of synthetic diffusion-weighted imaging approaches, highlighting key trade-offs in image quality, diversity, efficiency, and downstream performance.

neuroscience↗

bioRxiv2024

Comparison of Explainable AI Models for MRI-based Alzheimer's Disease Classification

Deep learning models based on convolutional neural networks (CNNs) have been used to classify Alzheimers disease or infer dementia severity from 3D T1-weighted brain MRI scans. Here, we examine the value of adding occlusion sensitivity analysis (OSA) and gradient-weighted class activation mapping (Grad-CAM) to these models to make the results more interpretable. Much research in this area focuses on specific datasets such as the Alzheimers Disease Neuroimaging Initiative (ADNI) or National Alzheimers Coordinating Center (NACC), which assess people of North American, predominantly European ancestry, so we examine how well models trained on these data generalize to a new population dataset from India (NIMHANS cohort). We also evaluate the benefit of using a combined dataset to train the CNN models. Our experiments show feature localization consistent with knowledge of AD from other methods. OSA and Grad-CAM resolve features at different scales to help interpret diagnostic inferences made by CNNs.

neuroscience↗

bioRxiv2022

Evaluation of Transfer Learning Methods for Detecting Alzheimer's Disease with Brain MRI

Deep neural networks show great promise for classifying brain diseases and making prognostic assessments based on neuroimaging data, but large, labeled training datasets are often required to achieve high predictive accuracy. Here we evaluated a range of transfer learning or pre-training strategies to create useful MRI representations for downstream tasks that lack large amounts of training data, such as Alzheimers disease (AD) classification. To test our proposed pre-training strategies, we analyzed 4,098 3D T1-weighted brain MRI scans from the Alzheimers Disease Neuroimaging Initiative (ADNI) cohort and independently validated with an out-of-distribution test set of 600 scans from the Open Access Series of Imaging Studies (OASIS3) cohort for detecting AD. First, we trained 3D and 2D convolutional neural network (CNN) architectures. We tested combinations of multiple pre-training strategies based on (1) supervised, (2) contrastive learning, and (3) self-supervised learning - using pre-training data within versus outside the MRI domain. In our experiments, the 3D CNN pre-trained with contrastive learning provided the best overall results - when fine-tuned on T1-weighted scans for AD classification - outperformed the baseline by 2.8% when trained with all of the training data from ADNI. We also show test performance as a function of the training dataset size and the chosen pre-training method. Transfer learning offered significant benefits in low data regimes, with a performance boost of 7.7%. When the pre-trained model was used for AD classification, we were able to visualize an improved clustering of test subjects diagnostic groups, as illustrated via a uniform manifold approximation (UMAP) projection of the high-dimensional model embedding space. Further, saliency maps indicate the additional activation regions in the brain scan using pre-training, that then maximally contributed towards the final prediction score.

neuroscience↗

bioRxiv2020

NERO: A Biomedical Named-entity (Recognition) Ontology with a Large, Annotated Corpus Reveals Meaningful Associations Through Text Embedding

Machine reading is essential for unlocking valuable knowledge contained in the millions of existing biomedical documents. Over the last two decades 1,2, the most dramatic advances in machine-reading have followed in the wake of critical corpus development3. Large, well-annotated corpora have been associated with punctuated advances in machine reading methodology and automated knowledge extraction systems in the same way that ImageNet 4 was fundamental for developing machine vision techniques. This study contributes six components to an advanced, named-entity analysis tool for biomedicine: (a) a new, Named-Entity Recognition Ontology (NERO) developed specifically for describing entities in biomedical texts, which accounts for diverse levels of ambiguity, bridging the scientific sublanguages of molecular biology, genetics, biochemistry, and medicine; (b) detailed guidelines for human experts annotating hundreds of named-entity classes; (c) pictographs for all named entities, to simplify the burden of annotation for curators; (d) an original, annotated corpus comprising 35,865 sentences, which encapsulate 190,679 named entities and 43,438 events connecting two or more entities; (e) validated, off-the-shelf, named-entity recognition automated extraction, and; (f) embedding models that demonstrate the promise of biomedical associations embedded within this corpus.

systems biology↗

bioRxiv2019

Rapid detection of identity-by-descent tracts for mega-scale datasets

The ability to identify segments of genomes identical-by-descent (IBD) is a part of standard workflows in both statistical and population genetics. However, traditional methods for finding local IBD across all pairs of individuals scale poorly leading to a lack of adoption in very large-scale datasets. Here, we present iLASH, IBD by LocAlity-Sensitive Hashing, an algorithm based on similarity detection techniques that shows equal or improved accuracy in simulations compared to the current leading method and speeds up analysis by several orders of magnitude on genomic datasets, making IBD estimation tractable for hundreds of thousands to millions of individuals. We applied iLASH to the Population Architecture using Genomics and Epidemiology (PAGE) dataset of [~]52,000 multi-ethnic participants, including several founder populations with elevated IBD sharing, which identified IBD segments on a single machine in an hour ([~]3 minutes per chromosome compared to over 6 days per chromosome for a state-of-the-art algorithm). iLASH is able to efficiently estimate IBD tracts in very large-scale datasets, as demonstrated via IBD estimation across the entire UK Biobank ([~]500,000 individuals), detecting nearly 13 billion pairwise IBD tracts shared between [~]11% of participants. In summary, iLASH enables fast and accurate detection of IBD, an upstream step in applications of IBD for population genetics and trait mapping.

genomics↗

bioRxiv2017

Genetic Diversity Turns a New PAGE in Our Understanding of Complex Traits

Summary/AbstractGenome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development, and clinical guidelines. However, the dominance of European-ancestry populations in GWAS creates a biased view of the role of human variation in disease, and hinders the equitable translation of genetic associations into clinical and public health applications. The Population Architecture using Genomics and Epidemiology (PAGE) study conducted a GWAS of 26 clinical and behavioral phenotypes in 49,839 non-European individuals. Using strategies designed for analysis of multi-ethnic and admixed populations, we confirm 574 GWAS catalog variants across these traits, and find 38 secondary signals in known loci and 27 novel loci. Our data shows strong evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts, and insights into clinical implications. We strongly advocate for continued, large genome-wide efforts in diverse populations to reduce health disparities.

genetics↗