AIMC Topic: DNA Copy Number Variations
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Machine learning-based selection of immune cell markers in osteosarcoma: prognostic determination and validation of CLK1 in disease progression.
Frontiers in immunology
Dec 17, 2024
INTRODUCTION: Osteosarcoma (OS) is a malignancy of the bone that mainly afflicts younger individuals. Despite existing treatment approaches, patients with metastatic or recurrent disease generally face poor prognoses. A greater understanding of the t...
Disease Progression
Cell Line, Tumor
Gene Expression Regulation, Neoplastic
Cell Proliferation
Lymphocytes, Tumor-Infiltrating
Protein-Tyrosine Kinases
Osteosarcoma
DNA Copy Number Variations
Bone Neoplasms
Female
Protein Serine-Threonine Kinases
Humans
Machine Learning
Prognosis
Tumor Microenvironment
Biomarkers, Tumor
Male
CNVoyant a machine learning framework for accurate and explainable copy number variant classification.
Scientific reports
Sep 28, 2024
The precise classification of copy number variants (CNVs) presents a significant challenge in genomic medicine, primarily due to the complex nature of CNVs and their diverse impact on rare genetic diseases (RGDs). This complexity is compounded by the...
Etiological stratification and prognostic assessment of haemophagocytic lymphohistiocytosis by machine learning on onco-mNGS data and clinical data.
Frontiers in immunology
Sep 9, 2024
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare, complicated and life threatening hyperinflammatory syndrome that maybe triggered by various infectious agents, malignancies and rheumatologic disorders. Early diagnosis and identificat...
MMGCN: Multi-modal multi-view graph convolutional networks for cancer prognosis prediction.
Computer methods and programs in biomedicine
Sep 6, 2024
BACKGROUND AND OBJECTIVE: Accurate prognosis prediction for cancer patients plays a significant role in the formulation of treatment strategies, considerably impacting personalized medicine. Recent advancements in this field indicate that integrating...
Low-pass whole genome sequencing of circulating tumor cells to evaluate chromosomal instability in triple-negative breast cancer.
Scientific reports
Sep 3, 2024
Chromosomal Instability (CIN) is a common and evolving feature in breast cancer. Large-scale Transitions (LSTs), defined as chromosomal breakages leading to gains or losses of at least 10 Mb, have recently emerged as a metric of CIN due to their stan...
Reproducibility of Results
Cell Line, Tumor
Triple Negative Breast Neoplasms
Cell Proliferation
Humans
Machine Learning
Female
Feasibility Studies
DNA Repair
Predictive Learning Models
Chromosomal Instability
DNA Copy Number Variations
Area Under Curve
Neoplastic Cells, Circulating
Whole Genome Sequencing
CNVDeep: deep association of copy number variants with neurocognitive disorders.
BMC bioinformatics
Aug 29, 2024
BACKGROUND: Copy number variants (CNVs) have become increasingly instrumental in understanding the etiology of all diseases and phenotypes, including Neurocognitive Disorders (NDs). Among the well-established regions associated with ND are small part...
AI-based histopathology image analysis reveals a distinct subset of endometrial cancers.
Nature communications
Jun 26, 2024
Endometrial cancer (EC) has four molecular subtypes with strong prognostic value and therapeutic implications. The most common subtype (NSMP; No Specific Molecular Profile) is assigned after exclusion of the defining features of the other three molec...
Machine learning identifies activation of RUNX/AP-1 as drivers of mesenchymal and fibrotic regulatory programs in gastric cancer.
Genome research
Jun 25, 2024
Gastric cancer (GC) is the fifth most common cancer worldwide and is a heterogeneous disease. Among GC subtypes, the mesenchymal phenotype (Mes-like) is more invasive than the epithelial phenotype (Epi-like). Although gene expression of the epithelia...
Multi omics analysis of mitophagy subtypes and integration of machine learning for predicting immunotherapy responses in head and neck squamous cell carcinoma.
Aging
Jun 21, 2024
Mitophagy serves as a critical mechanism for tumor cell death, significantly impacting the progression of tumors and their treatment approaches. There are significant challenges in treating patients with head and neck squamous cell carcinoma, undersc...
Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment.
Nature medicine
Jun 14, 2024
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and therapeutic response monitoring. To overcome the sparsity of ctDNA fragments in low tumor fraction (T...
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