ReviewHuman genomics2006
Strategies for the detection of copy number and other structural variants in the human genome.
Review in Human genomics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Copy Number Variants in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2017Pooled it
- OTSUCNV: an adaptive segmentation and OTSU-based anomaly classification method for CNV detection using NGS data.BMC genomics · 2024Article
- Copy number variations at theFrontiers in plant science · 2024Article
- CNVs with adaptive potential inLife science alliance · 2022Article
- Identification of immune-related ferroptosis prognostic marker and in-depth bioinformatics exploration of multi-omics mechanisms in thyroid cancer.Frontiers in molecular biosciences · 2022Article
- DeepCNV: a deep learning approach for authenticating copy number variations.Briefings in bioinformatics · 2021Article
- Comprehensively benchmarking applications for detecting copy number variation.PLoS computational biology · 2019Article
- The clinical impact of copy number variants in inherited bone marrow failure syndromes.NPJ genomic medicine · 2017Article
- Copy number variations in the genome of the Qatari population.BMC genomics · 2015Article
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.Nature biotechnology · 2011Article
- Regions of homozygosity and their impact on complex diseases and traits.Human genetics · 2011Review
- Saturation of the human phenome.Current genomics · 2010Article
- Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae.PLoS genetics · 2009Article
- Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect.International journal of biomedical science : IJBS · 2008Article
- Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.BMC genetics · 2008Article
- The diploid genome sequence of an individual human.PLoS biology · 2007Article
- Challenges and standards in integrating surveys of structural variation.Nature genetics · 2007Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advances in genome scanning technologies are revealing that copy number variants (CNVs) and polymorphisms, ranging from a few kilobases to several megabases in size, are present in genomes at frequencies much greater than previously known. Discoveries of additional forms of genomic variation, including inversions, insertions, deletions and complex rearrangements, are also occurring at an increased rate. Along with CNVs, these sequence alterations are collectively known as structural variants, and their discovery has had an immediate impact on the interpretation of basic research and clinical diagnostic data. This paper discusses different methods, experimental strategies and technologies that are currently available to study copy number variation and other structural variants in the human genome.
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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.