ArticleBioinformatics advances2026
CNV-Finder: streamlining copy number variation discovery.
Article in Bioinformatics advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.The Lancet. Neurology · 2026Observational
- Genome-wide association study of copy number variations in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.medRxiv : the preprint server for health sciences · 2025Article
- Large-scale copy number variant analysis in genes linked to Parkinson´s disease.NPJ Parkinson's disease · 2025Article
- The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.medRxiv : the preprint server for health sciences · 2025Article
- Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
33 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Motivation: Copy Number Variations (CNVs) play pivotal roles in complex disease etiology, often requiring large sample sizes to analyze disease associations. While genotyping arrays offer a cost-effective approach for CNV detection using Log R Ratio (LRR) and B Allele Frequency (BAF) signals, existing independent array-based callers suffer from high false positive rates and noise susceptibility, burdening manual validation. Results: We present CNV-Finder, a deep learning pipeline employing Long Short-Term Memory (LSTM) networks for large-scale CNV identification within user-defined genomic regions. Trained on expert-annotated samples from the Global Parkinson's Genetics Program across four neurodegenerative disease-associated genes ( Availability and implementation: CNV-Finder is freely available at https://github.com/nvk23/CNV-Finder.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.