ReviewFrontiers in genetics2014
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.
Review in Frontiers in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed.
- Segmental copy number amplifications are more stable than aneuploidies in the absence of selection.Molecular biology and evolution · 2026Article
- The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.Journal of cardiovascular development and disease · 2025Review
- Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Clinics (Sao Paulo, Brazil) · 2017Article
- The clinical impact of copy number variants in inherited bone marrow failure syndromes.NPJ genomic medicine · 2017Article
- BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2016Article
- The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research.Frontiers in genetics · 2015Article
- eMERGEing progress in genomics-the first seven years.Frontiers in genetics · 2014Review
- Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics.Frontiers in oncology · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the electronic medical record and genomics (eMERGE) consortium may be best leveraged to systematically mine for potentially pathogenic CNVs, and we end with a discussion of how such variants might be reported back for inclusion in electronic medical records as part of medical history.
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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.