ArticleGenome biology2009
An optimization framework for unsupervised identification of rare copy number variation from SNP array data.
Article in Genome biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Long-read based detection of large copy number variants with potential functional significance using the ContextSV structural variant caller.NAR genomics and bioinformatics · 2026Article
- ASVBM: Structural variant benchmarking with local joint analysis for multiple callsets.Computational and structural biotechnology journal · 2025Article
- Truvari: refined structural variant comparison preserves allelic diversity.Genome biology · 2022Article
- Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations.Animals : an open access journal from MDPI · 2020Article
- Deciphering the chronology of copy number alterations in Multiple Myeloma.Blood cancer journal · 2019Article
- Copy number variation in livestock: A mini review.Veterinary world · 2018Review
- Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.Clinical and translational medicine · 2017Article
- Radiogenomics and radiotherapy response modeling.Physics in medicine and biology · 2017Review
- Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content.BMC genomics · 2014Article
- Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.BMC bioinformatics · 2014Article
- Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data.Microarrays (Basel, Switzerland) · 2013Review
- Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array.BMC genomics · 2012Article
- Losing balance: Hardy-Weinberg disequilibrium as a marker for recurrent loss-of-heterozygosity in cancer.Human molecular genetics · 2011Article
- Genomic characteristics of cattle copy number variations.BMC genomics · 2011Article
- CNV-WebStore: online CNV analysis, storage and interpretation.BMC bioinformatics · 2011Article
- Analysis of copy loss and gain variations in Holstein cattle autosomes using BeadChip SNPs.BMC genomics · 2010Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Copy number variants (CNVs) have roles in human disease, and DNA microarrays are important tools for identifying them. In this paper, we frame CNV identification as an objective function optimization problem. We apply our method to data from hundreds of samples, and demonstrate its ability to detect CNVs at a high level of sensitivity without sacrificing specificity. Its performance compares favorably with currently available methods and it reveals previously unreported gains and losses.
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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.