The Proprotein Convertase Furin as a Novel Aneurysm Predisposition Gene Impairing TGF-β Signalling

Academic Background Aortic aneurysm (AA) is a condition characterized by abnormal dilation of the aorta, commonly occurring in the abdominal and thoracic aorta. Aortic aneurysms are more prevalent in individuals over the age of 65, and if not diagnosed and treated promptly, they can lead to fatal ruptures. Although age, smoking, hypertension, and m...

Significance in Scale Space for Hi-C Data Analysis

In the field of genomics, understanding the spatial organization of the genome is crucial for uncovering gene regulatory mechanisms. Hi-C technology, as a genome-wide chromosome conformation capture technique, can reveal the three-dimensional structure of the genome, particularly the key role of chromatin loops in gene regulation. However, existing...

Multi-Modal Interpretable Representation for Non-Coding RNA Classification and Class Annotation

Non-coding RNAs (ncRNAs) play critical roles in cellular processes and disease development. Although genome sequencing projects have revealed a vast number of non-coding genes, the functional classification of ncRNAs remains a complex and challenging issue. The diversity, complexity, and functionality of ncRNAs make them important subjects in biome...

Privacy-Preserving Framework for Genomic Computations via Multi-Key Homomorphic Encryption

Privacy-Preserving Framework for Genomic Analysis: A Study Based on Multi-Key Homomorphic Encryption Academic Background With the reduction in the cost of genome sequencing, the widespread availability of genomic data has opened up new possibilities for personalized medicine (also known as genomic medicine). However, genomic data contains a vast am...

Sequence Analysis: DNA Sequence Alignment Using Transformer Models

Academic Background DNA sequence alignment is a core task in genomics, aiming to map short DNA fragments (reads) to the most probable locations on a reference genome. Traditional methods typically involve two steps: first, indexing the genome, followed by efficient searching to locate potential positions for the reads. However, with the exponential...

SCICONE: Single-Cell Copy Number Calling and Event History Reconstruction

During tumor development, copy number alterations (CNAs) are key drivers of tumor heterogeneity and evolution. Understanding these variations is crucial for developing personalized cancer diagnostics and therapies. Single-cell sequencing technology offers the highest resolution for copy number analysis, down to the individual cell level. However, l...

GCLink: A Graph Contrastive Link Prediction Framework for Gene Regulatory Network Inference

Research Background Gene Regulatory Networks (GRNs) are crucial tools for understanding the complex biological processes within cells. They reveal the interactions between Transcription Factors (TFs) and target genes, thereby controlling gene transcription and regulating cellular behavior. With the advancement of single-cell RNA sequencing (scRNA-s...

Trajectory Alignment of Gene Expression Dynamics

The advent of single-cell RNA sequencing (scRNA-seq) technology has provided unprecedented resolution for studying gene expression dynamics during cell development and differentiation. However, due to the complexity of biological processes, cell developmental trajectories under different conditions are often asymmetric, posing challenges for data i...

Efficient Storage and Regression Computation for Population-Scale Genome Sequencing Studies

With the increasing availability of large-scale population biobanks, the potential of Whole Genome Sequencing (WGS) data in human health and disease research has been significantly enhanced. However, the massive computational and storage demands of WGS data pose significant challenges to research institutions, especially those with limited funding ...

Clinical and Genetic Markers of Vascular Toxicity in Glioblastoma Patients: Insights from NRG Oncology RTOG-0825

Clinical and Genetic Markers of Vascular Toxicity in Glioblastoma Patients: Insights from NRG Oncology RTOG-0825 Academic Background Glioblastoma (GBM) is a highly aggressive form of brain cancer, accounting for nearly 80% of malignant primary brain tumors. Despite standard treatments including surgical resection, radiotherapy, and chemotherapy, th...