ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed.
- Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.Clinical genetics · 2026Review
- The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.Journal of human genetics · 2024Article
- Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.Journal of personalized medicine · 2024Article
- Improving the Yield of Genetic Diagnosis through Additional Genetic Panel Testing in Hereditary Ophthalmic Diseases.Current issues in molecular biology · 2024Article
- Identification of a robust DNA methylation signature for Fanconi anemia.American journal of human genetics · 2023Article
- How Functional Genomics Can Keep Pace With VUS Identification.Frontiers in cardiovascular medicine · 2022Review
- Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.Journal of clinical immunology · 2022Article
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
- Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.Circulation. Genomic and precision medicine · 2021Article
- Considering complexity in the genetic evaluation of dilated cardiomyopathy.Heart (British Cardiac Society) · 2021Review
- Variants of Uncertain Significance and "Missing Pathogenicity".Journal of the American Heart Association · 2020Article
- Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.The Journal of clinical investigation · 2020Article
- Variant classification changes over time in BRCA1 and BRCA2.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The transformation of medical genetics by clinical genomics: hubris meets humility.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?Circulation. Genomic and precision medicine · 2018Article
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
PubMed holds no abstract for this paper.
Indexed as
Identifiers
29388946What 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.