ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed.
- Article
- Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation.Journal of translational medicine · 2025Article
- Article
- Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.Frontiers in genetics · 2022Article
- Cuproptosis-Related Gene -Pharmacogenomics and personalized medicine · 2022Article
- Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.Molecular biology reports · 2020Article
- Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?Journal of clinical medicine · 2020Article
- Response to Maya et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
- Commented on by
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
32341574What 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.