ArticleJournal of medical genetics2005
Global analysis of uniparental disomy using high density genotyping arrays.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 42 citations in OpenAlex.
- Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Trial
- Frequent copy number variants in a cohort of Mexican-Mestizo individuals.Molecular cytogenetics · 2023Article
- Multiple methods used for type detection of uniparental disomy in paternity testing.International journal of legal medicine · 2020Article
- Genome-wide UPD screening in patients with intellectual disability.European journal of human genetics : EJHG · 2014Article
- Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Epigenetics · 2014Article
- Article
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.American journal of medical genetics. Part A · 2010Article
- A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes.PloS one · 2010Article
- Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.European journal of human genetics : EJHG · 2009Article
- Review
- Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.BMC genomics · 2007Article
- Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.American journal of human genetics · 2006Article
- High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.Genome research · 2006Article
- Strategies for the detection of copy number and other structural variants in the human genome.Human genomics · 2006Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundUniparental disomy (UPD), the inheritance of both copies of a chromosome from a single parent, has been identified as the cause for congenital disorders such as Silver-Russell, Prader-Willi, and Angelman syndromes. Detection of UPD has largely been performed through labour intensive screening of DNA from patients and their parents, using microsatellite markers.
methodsWe applied high density single nucleotide polymorphism (SNP) microarrays to diagnose whole chromosome and segmental UPD and to study the occurrence of continuous or interspersed heterodisomic and isodisomic regions in six patients with Silver-Russell syndrome patients who had maternal UPD for chromosome 7 (matUPD7).
resultsWe have devised a new high precision and high-throughput computational method to confirm UPD and to localise segments where transitions of UPD status occur. Our method reliably confirmed and mapped the matUPD7 regions in all patients in our study.
conclusionOur results suggest that high density SNP arrays can be reliably used for rapid and efficient diagnosis of both segmental and whole chromosome UPD across the entire genome.
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