Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.

PloS one - 1 Jan 2015

Foong Justin, Girdea Marta, Stavropoulos James, Brudno Michael

Abstract excerpt

It is becoming increasingly necessary to develop computerized methods for identifying the few disease-causing variants from hundreds discovered in each individual patient. This problem is especially relevant for Copy Number Variants (CNVs), which can be cheaply interrogated via low-cost hybridization arrays commonly used in clinical practice. We present a method to predict the disease relevance of CNVs that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Causality
Share to Congenital Abnormalities
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Gene Ontology

Share to Gene Regulatory Networks

Share to Genetic Diseases, Inborn

Share to Oligonucleotide Array Sequence Analysis

Source

Open in PubMed Open full text

Identifiers

PMID: 26437450
DOI: 10.1371/journal.pone.0139656
PMCID: PMC4593641

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.PMID 26437450Read ↗

Automated prediction of the clinical impact of structural copy number variationsSemantic proximity Read ↗

TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVsSemantic proximity Read ↗

Combination of Expert Guidelines-based and Machine Learning-based Approaches Leads to Superior Accuracy of Automated Prediction of Clinical Effect of Copy Number VariationsSemantic proximity Read ↗

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipelineSemantic proximity Read ↗

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patientsSemantic proximity Read ↗

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.Semantic proximity Read ↗

Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline.Semantic proximity Read ↗

X-CNV: genome-wide prediction of the pathogenicity of copy number variations.Semantic proximity Read ↗

How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios.Semantic proximity Read ↗

CNVannotator: a comprehensive annotation server for copy number variation in the human genome.Semantic proximity Read ↗

CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number VariantsSemantic proximity Read ↗

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.