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PubMed2025

CNV-Finder: Streamlining Copy Number Variation Discovery.

Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding the association between CNVs and disease susceptibility is significant in disease genetics research and often requires analysis of large sample sizes. One of the most cost-effective and scalable methods for detecting CNVs is based on normalized signal intensity values, such as Log R Ratio (LRR) and B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present CNV-Finder, a novel pipeline integrating deep learning techniques on array data, specifically a Long Short-Term Memory (LSTM) network, to expedite the large-scale identification of CNVs within predefined genomic regions. This facilitates efficient prioritization of samples for time-consuming or costly subsequent analyses such as Multiplex Ligation-dependent Probe Amplification (MLPA), short-read, and long-read whole genome sequencing. We incorporate four genes to establish our methods-Parkin (PRKN), Leucine Rich Repeat And Ig Domain Containing 2 (LINGO2), Microtubule Associated Protein Tau (MAPT), and alpha-Synuclein (SNCA)-which may be relevant to neurological diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Progressive Supranuclear Palsy (PSP), or related disorders such as essential tremor (ET). By training our models on expert-annotated samples and validating them across diverse cohorts, including those from the Global Parkinson's Genetics Program (GP2) and additional dementia-specific databases, we demonstrate the efficacy of CNV-Finder in accurately detecting deletions and duplications. Our pipeline outputs app-compatible files for visualization within CNV-Finder's interactive web application. This interface enables researchers to review predictions and filter displayed samples by model prediction values, LRR range, and variant count in order to explore or confirm results. Our pipeline integrates this human feedback to enhance model performance and reduce false positive rates. Through a series of comprehensive analyses and validations using visual inspection, MLPA, short-read, and long-read sequencing data, we demonstrate the robustness and adaptability of CNV-Finder in identifying CNVs with regions of varied size, probe density, and noise. Our findings highlight the significance of contextual understanding and human expertise in enhancing the precision of CNV identification, particularly in complex genomic regions like 17q21.31. The CNV-Finder pipeline is a scalable, publicly available resource for the scientific community, available on GitHub (https://github.com/GP2code/CNV-Finder; DOI 10.5281/zenodo.14182563). CNV-Finder not only expedites accurate candidate identification but also significantly reduces the manual workload for researchers, enabling future targeted validation and downstream analyses in regions or phenotypes of interest.

Copy Number Variation (CNV)↗

PubMed2025

Soffritto: a deep learning model for predicting high-resolution replication timing.

MOTIVATION: Replication timing (RT) refers to the order in which DNA loci are replicated during S phase. RT is cell-type specific and implicated in cellular processes including transcription, differentiation, and disease. RT is typically quantified genome-wide using two-fraction assays (e.g. Repli-Seq) which sort cells into early and late S phase fractions followed by DNA sequencing, yielding a ratio as the RT signal. While two-fraction RT data are widely available in multiple cell lines, it is limited in its ability to capture high-resolution RT features. To address this, high-resolution Repli-Seq, which quantifies RT across 16 fractions, was developed, but it is costly and technically challenging with very limited data generated to date. RESULTS: Here, we developed Soffritto, a deep learning model that predicts high-resolution RT data using two-fraction RT data, histone ChIP-seq data, GC content, and gene density as input. Soffritto is composed of a Long Short-Term Memory (LSTM) module and a prediction module. The LSTM module learns long- and short-range interactions between genomic bins, while the prediction module is composed of a fully connected layer that outputs a 16-fraction probability vector for each bin using the LSTM module's embeddings as input. By performing both within cell line and cross-cell line training and testing for five human and mouse cell lines, we show that Soffritto is able to capture experimental 16-fraction RT signals with high accuracy, and the predicted signals allow detection of high-resolution RT patterns. AVAILABILITY AND IMPLEMENTATION: Soffritto is available at https://github.com/ay-lab/Soffritto.

Deep Learning↗

PubMed2026

SurvGRN: a multi-feature fusion framework for bladder cancer survival prediction.

Bladder cancer survival outcomes exhibit significant heterogeneity, influenced by multifaceted factors. While digital pathology-based survival models leveraging artificial intelligence show promise, they often overlook complementary data sources. Conversely, imaging lacks cellular detail, and genomics/proteomics entail complexity and cost. To integrate multidimensional data for enhanced survival prediction, we propose SurvGRN, a multi-feature fusion framework. SurvGRN synergistically combines clinical variables, transcriptomics, and digital pathology slides using a gated residual network architecture. Pathological features are extracted via multiple instance learning, while clinical and transcriptomic data are processed as static inputs. These features are dynamically fused using a long short-term memory (LSTM) network for comprehensive survival risk assessment. Evaluated on 400 bladder cancer patients, SurvGRN significantly outperformed existing methods: improving the C-index by 12.6% over DeepMISL; 20.6% and 7.1% over graph-based models (DeepGraphConv and Patch-GCN); and 5.4% and 4.0% over attention-based approaches (Surformer and HVTSurv). Ablation studies confirmed the contributions of pathology features (extracted via ResNet-50 pre-trained on bladder tissue), clinical/transcriptomic data, and the LSTM fusion. SurvGRN also enabled significant stratification of patients into distinct risk cohorts. This work demonstrates that holistic integration of multi-source data through tailored fusion architectures substantially improves bladder cancer survival prediction.

bladder cancer↗

PubMed2025

A comparative study highlights superiority of LSTM in crop genomic prediction.

We systematically evaluated three key determinants affecting prediction accuracy and the algorithm performance differences based on fifteen state-of-the-art GP methods, and found LSTM suitable for capturing additive and epistatic effects. Genomic prediction (GP) has been developed as an important method supporting crop breeding. By utilizing the phenotype values result from GP, breeders could make decisions in the seedling stage that consequently benefit for cost saving. In recent years, machine learning emerged as an efficient technology to solve modeling problems in many fields, including crop breeding. However, numerous modeling approaches have hindered the application of GP since breeders struggle to choose. Therefore, a comprehensively methodological research with guiding significance is extremely necessary. In the present study, we systematically evaluated three key determinants affecting prediction accuracy and the algorithm performance differences based on fifteen state-of-the-art GP methods. As for genomic feature processing, we found feature selection (SNP filtering approach) performed better than feature extraction (PCA method). Specifically, the feature relationship dependent methods (GBLUP, RNN, and LSTM) as well as DNN architecture showed superior performance with feature selection. Marker density analysis showed positive correlation with prediction accuracy in a limited threshold. Comparison on effect of population size demonstrated a positive correlation between trait genetic complexity and the optimal population size required. By testing fifteen modeling methods, we found LSTM network displayed superior performance, achieving the highest average STScore (0.967) across six datasets. Further research using all cell states or the latest cell states of LSTM inputs demonstrated its architecture particularly adept with capturing additive and epistatic QTL effects among SNPs. In conclusion, our findings provide basic principles for implementing GP in breeding project to maximize prediction accuracy while maintaining cost-effectiveness.

Plant Breeding↗