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Louis-S Bouchard

Publications and source records attributed to Louis-S Bouchard.

6 recordsLinked to original sources

MKMC enables reference-free transcriptomic analysis using k-mer representations.

Traditional RNA-seq analysis depends heavily on genome alignment and gene annotation, limiting its utility in non-model organisms and introducing biases that can obscure regulatory complexity. We present MKMC (Multi-sample Kmer Counter), a scalable, reference-free toolkit for RNA-seq analysis that leverages k-mer-based statistics to detect biological variation without requiring alignment. MKMC integrates fast k-mer counting, abundance matrix generation, normalization, dimensionality reduction, and differential analysis into a unified workflow. Across diverse datasets, MKMC recapitulates key biological signals-including sex differences in killifish liver-and matches alignment-based pipelines in differential expression analysis and transcriptomic age prediction. Notably, MKMC detects isoform-specific events missed by traditional methods, one of which we validated using in situ hybridization. These results reveal previously hidden isoform-level regulatory events that contribute to sex- and age-associated transcriptional programs. MKMC offers a robust, extensible alternative to alignment-based approaches, enabling transcriptomic discovery across both model and non-model systems. While we focus here on RNA-seq as a primary application, MKMC is broadly applicable to any k-mer-based analysis of next-generation sequencing data.

MKMC↗

Embed-Search-Align: DNA sequence alignment using Transformer models.

MOTIVATION: DNA sequence alignment, an important genomic task, involves assigning short DNA reads to the most probable locations on an extensive reference genome. Conventional methods tackle this challenge in two steps: genome indexing followed by efficient search to locate likely positions for given reads. Building on the success of Large Language Models in encoding text into embeddings, where the distance metric captures semantic similarity, recent efforts have encoded DNA sequences into vectors using Transformers and have shown promising results in tasks involving classification of short DNA sequences. Performance at sequence classification tasks does not, however, guarantee sequence alignment, where it is necessary to conduct a genome-wide search to align every read successfully, a significantly longer-range task by comparison. RESULTS: We bridge this gap by developing a "Embed-Search-Align" (ESA) framework, where a novel Reference-Free DNA Embedding (RDE) Transformer model generates vector embeddings of reads and fragments of the reference in a shared vector space; read-fragment distance metric is then used as a surrogate for sequence similarity. ESA introduces: (i) Contrastive loss for self-supervised training of DNA sequence representations, facilitating rich reference-free, sequence-level embeddings, and (ii) a DNA vector store to enable search across fragments on a global scale. RDE is 99% accurate when aligning 250-length reads onto a human reference genome of 3 gigabases (single-haploid), rivaling conventional algorithmic sequence alignment methods such as Bowtie and BWA-Mem. RDE far exceeds the performance of six recent DNA-Transformer model baselines such as Nucleotide Transformer, Hyena-DNA, and shows task transfer across chromosomes and species. AVAILABILITY AND IMPLEMENTATION: Please see https://anonymous.4open.science/r/dna2vec-7E4E/readme.md.

Sequence Analysis, DNA↗

Structural anisotropy and internal magnetic fields in trabecular bone: coupling solution and solid dipolar interactions.

We investigate the use of intermolecular multiple-quantum coherence to probe structural anisotropy in trabecular bone. Despite the low volume fraction of bone, the bone-water interface produces internal magnetic field gradients which modulate the dipolar field, depending on sample orientation, choice of dipolar correlation length, correlation gradient direction, and evolution time. For this system, the probing of internal magnetic field gradients in the liquid phase permits indirect measurements of the solid phase dipolar field. Our results suggest that measurements of volume-averaged signal intensity as a function of gradient strength and three orthogonal directions could be used to non-invasively measure the orientation of structures inside a sample or their degree of anisotropy. The system is modeled as having two phases, solid and liquid (bone and water), which differ in their magnetization density and magnetic susceptibility. A simple calculation using a priori knowledge of the material geometry and distribution of internal magnetic fields verifies the experimental measurements as a function of gradient strength, direction, and sample orientation.

Anisotropy↗

Multiple-quantum vector field imaging by magnetic resonance.

We introduce a method for non-invasively mapping fiber orientation in materials and biological tissues using intermolecular multiple-quantum coherences. The nuclear magnetic dipole field of water molecules is configured by a CRAZED sequence to encode spatial distributions of material heterogeneities. At any given point r in space, we obtain the spherical coordinates of fiber orientation (theta,phi) with respect to the external field by comparing three signals ||G(X)||, ||(Y)||, and ||G(Z)|| (modulus), acquired with linear gradients applied along the X, Y, and Z axes, respectively. For homogeneous isotropic materials, a subtraction ||G(Z)|| - ||G(X)|| - ||G(Y)|| gives zero. With anisotropic materials, we find an empirical relationship relating ||G(Z)|| - ||G(X)|| - ||G(Y)||/(||G(X)|| + ||G(Y)|| + ||G(Z)||) to the polar angle theta, while ||G(X|| - ||G(Y)||/(||G(X)|| + ||G(Y)|| + ||G(Z)||) is related to the azimuthal angle phi. Experiments in structured media confirm the structural sensitivity. This technique can probe length scales not accessible by conventional MRI and diffusion tensor imaging.

Animals↗

Reconstruction of porous material geometry by stochastic optimization based on bulk NMR measurements of the dipolar field.

The dependence of the bulk signal intensity from a CRAZED NMR pulse sequence on magnetic field gradient strength and direction as a method to probe the geometry of porous materials is investigated. In this article, we report on the reconstruction of three-dimensional media consisting of a void phase and an NMR-observable liquid phase using the bulk intensity of the distant dipolar field. The correlation gradient strength and direction provide the spatial encoding of the material geometry. An integral equation for the total signal intensity is then solved numerically by a simulated annealing algorithm to recover the indicator function of the fluid phase. Results show that cylindrical and spherical structures smaller than the volume contributing to the NMR signal can be resolved using three values of the correlation distance and three orthogonal gradient directions. This is done by minimizing a cost function which measures the distance between the bulk signal dependence on gradient parameters for the simulated configuration and the signal dependence for the target configuration. The algorithm can reconstruct and differentiate their spherical and cylindrical phase-inverted equivalents. It can also differentiate horizontal from vertical cylinders, demonstrating the potential for assessing structural anisotropy and other coarse geometric quantifiers in a porous material.

Algorithms↗

Isolating quantum coherences in structural imaging using intermolecular double-quantum coherence MRI.

Intermolecular multiple-quantum coherence (iMQC) MR imaging provides a fundamentally different contrast mechanism. It allows probing tissue microstructure by tuning the direction and strength of the correlation gradient. However, iMQC images of a specific quantum-coherence can easily be contaminated by leakage signals from undesired quantum coherences (zero, single, and triple quantum coherence in this work). Using a modified double-quantum CRAZED imaging sequence, we show that signals originating from various coherence orders (M=0, 1, 2, 3) can be predicted in k-space and effectively isolated by means of a four-step phase cycling scheme and judicious choice of flip angles. Finally, preliminary data suggest the method to be able to provide information on trabecular bone architecture such as regional mean trabecular plate separation.

Algorithms↗