ReviewJournal of applied genetics2017
Clinical interpretation of copy number variants in the human genome.
Review in Journal of applied genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 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
62 citing papers in PubMed.
- The results of CNVs analysis in patients with neurodevelopmental delay, dysmorphic features and congenital defects.Journal of applied genetics · 2026Article
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- Towards Precision Medicine in Obesity: Genetic Copy Number Variations Profiling Linked to Specific Metabolic Dysregulation Patterns.International journal of molecular sciences · 2025Article
- Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- Performance evaluation of noninvasive prenatal testing on 24 chromosomes in a cohort of 118,969 pregnant women in Sichuan, China.The Journal of international medical research · 2024Article
- Robust analysis of allele-specific copy number alterations from scRNA-seq data with XClone.Nature communications · 2024Article
- Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis.Cellular and molecular life sciences : CMLS · 2024Article
- The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.Brain sciences · 2024Article
- The impact of FASTQ and alignment read order on structural variant calling from long-read sequencing data.PeerJ · 2024Article
- Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2024Article
- Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility.International journal of molecular sciences · 2023Review
- Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.Molecular syndromology · 2023Article
- Detection of copy number variations based on a local distance using next-generation sequencing data.Frontiers in genetics · 2023Article
- Rare copy number variation in posttraumatic stress disorder.Molecular psychiatry · 2022Article
- Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing-A Comprehensive Cohort Study of Associated Chromosomal Aberrations.International journal of environmental research and public health · 2022Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients.Journal of clinical laboratory analysis · 2022Article
- Automated prediction of the clinical impact of structural copy number variations.Scientific reports · 2022Article
- The role of BCL9 genetic variation as a biomarker for hepatitis C-related hepatocellular carcinoma in Egyptian patients.Journal, genetic engineering & biotechnology · 2022Article
- Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Human brain mapping · 2022Review
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs.
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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.