ArticleHuman mutation2012
Diagnostic interpretation of array data using public databases and internet sources.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Copy Number Variants in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2017Pooled it
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- Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.European child & adolescent psychiatry · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Efficacy of active ingredients in Qingdai on ulcerative colitis: a network pharmacology-based evaluation.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2023Article
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- Dynamic Interplay between Structural Variations and 3D Genome Organization in Pancreatic Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
- Integrated bioinformatics analysis identifies established and novel TGFβ1-regulated genes modulated by anti-fibrotic drugs.Scientific reports · 2022Article
- Congenital heart defects and copy number variants associated with neurodevelopmental impairment.American journal of medical genetics. Part A · 2022Article
- Diagnostic Value, Prognostic Value, and Immune Infiltration ofFrontiers in oncology · 2022Article
- Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.BMC genomics · 2021Article
- Low Expression of SLC7A11 Confers Drug Resistance and Worse Survival in Ovarian CancerFrontiers in oncology · 2021Article
- Identification of key genes involved in post-traumatic stress disorder: Evidence from bioinformatics analysis.World journal of psychiatry · 2020Article
- Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.Genetics and molecular biology · 2020Article
- Decreased metabolism and increased tolerance to extreme environments in Staphylococcus warneri during long-term spaceflight.MicrobiologyOpen · 2019Article
- The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.BMC medical genomics · 2019Article
- Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.BMC medical genomics · 2019Article
- European guidelines for constitutional cytogenomic analysis.European journal of human genetics : EJHG · 2019Review
- Identification of Key Genes and Pathways in Post-traumatic Stress Disorder Using Microarray Analysis.Frontiers in psychology · 2019Article
- Structural variation in the 3D genome.Nature reviews. Genetics · 2018Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy-number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single-nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit-for-purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype-based array data.
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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.