AIMC Topic: DNA Copy Number Variations

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Genetic features for drug responses in cancer - Investigating an ensemble-feature-selection approach.

Computers in biology and medicine
Predicting drug responses using genetic and transcriptomic features is crucial for enhancing personalized medicine. In this study, we implemented an ensemble of machine learning algorithms to analyze the correlation between genetic and transcriptomic...

EMcnv: enhancing CNV detection performance through ensemble strategies with heterogeneous meta-graph neural networks.

Briefings in bioinformatics
Copy number variation (CNV) is a crucial biomarker for many complex traits and diseases. Although numerous CNV detection tools are available, no single method consistently achieves optimal performance across diverse sequencing samples, as each tool h...

Deep learning-driven survival prediction in pan-cancer studies by integrating multimodal histology-genomic data.

Briefings in bioinformatics
Accurate cancer prognosis is essential for personalized clinical management, guiding treatment strategies and predicting patient survival. Conventional methods, which depend on the subjective evaluation of histopathological features, exhibit signific...

Constructing a Prognostic Model for Subtypes of Colorectal Cancer Based on Machine Learning and Immune Infiltration-Related Genes.

Journal of cellular and molecular medicine
This study constructed a prognostic model combining machine learning-based immune infiltration-related genes in each CRC subtype. We used publicly accessible gene expression data and clinical information on colorectal cancer patients. Integrated bioi...

Building a Risk Scoring Model for ARDS in Lung Adenocarcinoma Patients Using Machine Learning Algorithms.

Journal of cellular and molecular medicine
Lung adenocarcinoma (LUAD), the predominant form of non-small-cell lung cancer, is frequently complicated by acute respiratory distress syndrome (ARDS), which increases mortality risks. Investigating the prognostic implications of ARDS-related genes ...

Inferring tumor purity using multi-omics data based on a uniform machine learning framework MoTP.

Briefings in bioinformatics
Existing algorithms for assessing tumor purity are limited to a single omics data, such as gene expression, somatic copy number variations, somatic mutations, and DNA methylation. Here we proposed the machine learning Multi-omics Tumor Purity predict...

TransCell: In Silico Characterization of Genomic Landscape and Cellular Responses by Deep Transfer Learning.

Genomics, proteomics & bioinformatics
Gene expression profiling of new or modified cell lines becomes routine today; however, obtaining comprehensive molecular characterization and cellular responses for a variety of cell lines, including those derived from underrepresented groups, is no...

Identify gestational diabetes mellitus by deep learning model from cell-free DNA at the early gestation stage.

Briefings in bioinformatics
Gestational diabetes mellitus (GDM) is a common complication of pregnancy, which has significant adverse effects on both the mother and fetus. The incidence of GDM is increasing globally, and early diagnosis is critical for timely treatment and reduc...

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource.

Nucleic acids research
The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industr...

DeepCNV: a deep learning approach for authenticating copy number variations.

Briefings in bioinformatics
Copy number variations (CNVs) are an important class of variations contributing to the pathogenesis of many disease phenotypes. Detecting CNVs from genomic data remains difficult, and the most currently applied methods suffer from an unacceptably hig...