ArticleJournal of medical genetics2004
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 79 citations in OpenAlex.
- IncreasedJournal of medical genetics · 2020Article
- Identification of novel candidate disease genes from de novo exonic copy number variants.Genome medicine · 2017Article
- Incidental copy-number variants identified by routine genome testing in a clinical population.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.BMC medical genetics · 2011Article
- Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.American journal of human genetics · 2011Article
- A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?Molecular syndromology · 2011Article
- Detection of clinically relevant exonic copy-number changes by array CGH.Human mutation · 2010Article
- Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Genomics insights · 2010Article
- Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.The Journal of molecular diagnostics : JMD · 2009Article
- A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns.BMC bioinformatics · 2009Article
- Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.Prenatal diagnosis · 2009Article
- Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Article
- Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.Journal of human genetics · 2008Article
- Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.American journal of human genetics · 2007Article
- Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.PloS one · 2007Article
- DNA microarrays in herbal drug research.Evidence-based complementary and alternative medicine : eCAM · 2006Article
- Application of array-based comparative genomic hybridization to clinical diagnostics.The Journal of molecular diagnostics : JMD · 2006Review
- Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations.Human genetics · 2006Article
- Genetic alterations in primary gastric carcinomas correlated with clinicopathological variables by array comparative genomic hybridization.Journal of Korean medical science · 2006Article
- Chromosome analysis: what and when to request.Archives of disease in childhood · 2005Review
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 at 2 institutions in 1 country.
Funding
Abstract
backgroundProximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A, hereditary neuropathy with liability to pressure palsies, Smith-Magenis syndrome, and dup(17)(p11.2p11.2) syndrome. While 80-90% or more of the rearrangements resulting in each disorder are recurrent, several non-recurrent deletions or duplications of varying sizes within proximal 17p also have been characterised using fluorescence in situ hybridisation (FISH).
methodsA BAC/PAC array based comparative genomic hybridisation (array-CGH) method was tested for its ability to detect these genomic dosage differences and map breakpoints in 25 patients with recurrent and non-recurrent rearrangements.
resultsArray-CGH detected the dosage imbalances resulting from either deletion or duplication in all the samples examined. The array-CGH approach, in combination with a dependent statistical inference method, mapped 45/46 (97.8%) of the analysed breakpoints to within one overlapping BAC/PAC clone, compared with determinations done independently by FISH. Several clones within the array that contained large LCRs did not have an adverse effect on the interpretation of the array-CGH data.
conclusionsArray-CGH is an accurate and sensitive method for detecting genomic dosage differences and identifying rearrangement breakpoints, even in LCR-rich regions of the genome.
Indexed as
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.