Cover Image

Classifying Copy Number Variations Using State Space Modeling of Targeted Sequencing Data: A Case Study in Thalassemia

Fuente: arXiv

Saved in:

Bibliographic Details
Main Authors:	Talbot, Austin, Kotlar, Alex, Rishishiwar, Lavanya, Ke, Yue
Format:	Preprint
Published:	2025
Subjects:	Genomics
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Combining Bayesian and Frequentist Inference for Laboratory-Specific Performance Guarantees in Copy Number Variation Detection
by: Talbot, Austin, et al.
Published: (2026)

Detecting Batch Heterogeneity via Likelihood Clustering
by: Talbot, Austin, et al.
Published: (2026)

CN-SBM: Categorical Block Modelling For Primary and Residual Copy Number Variation
by: Lam, Kevin, et al.
Published: (2025)

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series
by: Jiong Yan, et al.
Published: (2026)

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach
by: Gerardo E. Fabian‐Morales, et al.
Published: (2024)

Bridging Sequence-Structure Alignment in RNA Foundation Models
by: Yang, Heng, et al.
Published: (2024)

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System
by: Zhihui Wang, et al.
Published: (2026)

BDKRB1 Links Copy Number–Defined Genomic Instability to Inflammatory and Immunosuppressive Tumor Ecosystems in Ovarian Cancer: An Integrative Multiomics Analysis
by: Dali Pu, et al.
Published: (2026)

A Graphical Method for Identifying Gene Clusters from RNA Sequencing Data
by: Patock, Jake R., et al.
Published: (2025)

Effects of Training Data Quality on Classifier Performance
by: Karr, Alan F., et al.
Published: (2026)

SeqManager: A Web-Based Tool for Efficient Sequencing Data Storage Management and Duplicate Detection
by: Celerie, Margot, et al.
Published: (2025)

Biological Sequence Clustering: A Survey
by: Zhang, Simeng, et al.
Published: (2026)

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy‐Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B‐Cell Precursor Acute Lymphoblastic Leukemia
by: Nor Soleha Mohd Dali, et al.
Published: (2026)

Poisoning the Genome: Targeted Backdoor Attacks on DNA Foundation Models
by: Koilakos, Charalampos, et al.
Published: (2026)

What Can Genome Sequence Data Reveal About Population Viability?
by: Kardos, Marty, et al.
Published: (2025)

A Chromosome-level Assembly and Functional Genomic Resources for the Model Annelid Capitella teleta.
by: Davies, Billie E, et al.
Published: (2026)

Association Between KLF1, BCL11A and HBS1L‐MYB Polymorphisms and Phenotypes With β‐Thalassemia Patients in Hainan
by: Junjie Hu, et al.
Published: (2025)

MHASS: Microbiome HiFi Amplicon Sequencing Simulator
by: Howard-Stone, Rye, et al.
Published: (2025)

Identification of Progression‐Associated Biomarkers in Lung Cancer Based on the Integrated Analysis of RNA Sequencing Data From Platelets and Tumor Tissues
by: Liancheng Lin, et al.
Published: (2025)

S3Mirror: Making Genomic Data Transfers Fast, Reliable, and Observable with DBOS
by: Vasquez-Grinnell, Steven, et al.
Published: (2025)

Development of an Agentic AI Model for NGS Downstream Analysis Targeting Researchers with Limited Biological Background
by: Lee, Donghyeon, et al.
Published: (2025)

DNAMotifTokenizer: Towards Biologically Informed Tokenization of Genomic Sequences
by: Zhou, Xiaoxiao, et al.
Published: (2025)

A Pan-cancer Classification Model using Multi-view Feature Selection Method and Ensemble Classifier
by: Chowdhury, Tareque Mohmud, et al.
Published: (2025)

Single-Cell Omics Arena: A Benchmark Study for Large Language Models on Cell Type Annotation Using Single-Cell Data
by: Liu, Junhao, et al.
Published: (2024)

Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting
by: Nadja Louw, et al.
Published: (2026)

A Large-Scale Comparative Analysis of Imputation Methods for Single-Cell RNA Sequencing Data
by: Iwashita, Yuichiro, et al.
Published: (2026)

Hierarchical Classification for Predicting Metastasis Using Elastic-Net Regularization on Gene Expression Data
by: Agyare, Benjamin Osafo, et al.
Published: (2024)

SeekRBP: Leveraging Sequence-Structure Integration with Reinforcement Learning for Receptor-Binding Protein Identification
by: Luo, Xiling, et al.
Published: (2026)

Predicting Breast Cancer Phenotypes from Single-cell RNA-seq Data Using CloudPred
by: Moghimianavval, Hossein, et al.
Published: (2024)

Lyra: An Efficient and Expressive Subquadratic Architecture for Modeling Biological Sequences
by: Ramesh, Krithik, et al.
Published: (2025)

BarcodeMamba: State Space Models for Biodiversity Analysis
by: Gao, Tiancheng, et al.
Published: (2024)

Causal Discovery on Dependent Mixed Data with Applications to Gene Regulatory Network Inference
by: Chen, Alex, et al.
Published: (2026)

Mechanism of Quercetin in Inhibiting Triple-Negative Breast Cancer by Regulating T Cell-Related Targets: An Analysis Based on Single-Cell Sequencing and Network Pharmacology
by: Chen, Ruiqi, et al.
Published: (2025)

bDNA Medium: Secure Conversion of Raw Genomic Sequencing Data to Verifiable Cryptographic Objects
by: Lowy, Shoel
Published: (2026)

DuAL-Net: A Hybrid Framework for Alzheimer's Disease Prediction from Whole-Genome Sequencing via Local SNP Windows and Global Annotations
by: Lee, Eun Hye, et al.
Published: (2025)

NucEL: Single-Nucleotide ELECTRA-Style Genomic Pre-training for Efficient and Interpretable Representations
by: Ding, Ke, et al.
Published: (2025)

Multimodal Modeling of CRISPR-Cas12 Activity Using Foundation Models and Chromatin Accessibility Data
by: Amirabad, Azim Dehghani, et al.
Published: (2025)

HAD: Hybrid Architecture Distillation Outperforms Teacher in Genomic Sequence Modeling
by: Yang, Hexiong, et al.
Published: (2025)

Caduceus: Bi-Directional Equivariant Long-Range DNA Sequence Modeling
by: Schiff, Yair, et al.
Published: (2024)

Embed-Search-Align: DNA Sequence Alignment using Transformer Models
by: Holur, Pavan, et al.
Published: (2023)