AIMC Topic: DNA Copy Number Variations

Clear Filters Showing 71 to 76 of 76 articles

Differentiation of rare brain tumors through unsupervised machine learning: Clinical significance of in-depth methylation and copy number profiling illustrated through an unusual case of IDH wildtype glioblastoma.

Clinical neuropathology Jan 1, 2021
Methylation profiling has become a mainstay in brain tumor diagnostics since the introduction of the first publicly available classification tool by the German Cancer Research Center in 2017. We demonstrate the capability of this system through an ex...
Adult Brain Neoplasms Humans Female Unsupervised Machine Learning Glioblastoma DNA Methylation DNA Copy Number Variations
View on PubMed DOI

Increasing the Clinical Psychiatric Knowledge Base About Pathogenic Copy Number Variation.

The American journal of psychiatry Mar 1, 2020
Specific copy number variants (CNVs) have been robustly associated with intellectual disability, autism, and schizophrenia. Most of the literature focus has been on documenting the existence of these phenomena. There are few data to guide therapeutic...
Mental Disorders Genotype Humans DNA Copy Number Variations Knowledge Bases
View on PubMed DOI

Risk stratification of cervical lesions using capture sequencing and machine learning method based on HPV and human integrated genomic profiles.

Carcinogenesis Oct 16, 2019
From initial human papillomavirus (HPV) infection and precursor stages, the development of cervical cancer takes decades. High-sensitivity HPV DNA testing is currently recommended as primary screening method for cervical cancer, whereas better triage...
Risk Assessment China Carcinoma, Squamous Cell Uterine Cervical Neoplasms Papillomavirus Infections DNA Copy Number Variations Incidence Genomics Humans Machine Learning Prognosis Female Papillomaviridae Mutation Uterine Cervical Dysplasia
View on PubMed DOI

DL-CNV: A deep learning method for identifying copy number variations based on next generation target sequencing.

Mathematical biosciences and engineering : MBE Sep 30, 2019
Copy number variations (CNVs) play an important role in many types of cancer. With the rapid development of next generation sequencing (NGS) techniques, many methods for detecting CNVs of a single sample have emerged: (i) require genome-wide data of ...
Exons Proto-Oncogene Proteins c-met Genome, Human False Positive Reactions Reproducibility of Results Sensitivity and Specificity Deep Learning Area Under Curve Genome-Wide Association Study Algorithms High-Throughput Nucleotide Sequencing Databases, Factual Carcinoma, Non-Small-Cell Lung In Situ Hybridization, Fluorescence ROC Curve Humans DNA Copy Number Variations Receptor, ErbB-2 Lung Neoplasms
View on PubMed DOI

EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data.

Nucleic acids research Apr 23, 2019
The associations between diseases/traits and copy number variants (CNVs) have not been systematically investigated in genome-wide association studies (GWASs), primarily due to a lack of robust and accurate tools for CNV genotyping. Herein, we propose...
Genotyping Techniques Machine Learning Polymorphism, Single Nucleotide Datasets as Topic DNA Copy Number Variations Humans Genome, Human Quality Control
View on PubMed DOI

A Sparse Learning Framework for Joint Effect Analysis of Copy Number Variants.

IEEE/ACM transactions on computational biology and bioinformatics Jan 1, 2017
Copy number variants (CNVs), including large deletions and duplications, represent an unbalanced change of DNA segments. Abundant in human genomes, CNVs contribute to a large proportion of human genetic diversity, with impact on many human phenotypes...
Genome, Human Genomics Databases, Genetic Machine Learning DNA Copy Number Variations Humans Protein Interaction Maps Genetic Variation
View on PubMed DOI
Popular Topics
Recent Journals