ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
A new era in the interpretation of human genomic variation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. 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.
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- 2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing.American journal of human genetics · 2023Article
- International initiative for a curatedJournal of medical genetics · 2022Article
- Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Journal of medical genetics · 2022Article
- The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.The Lancet. Respiratory medicine · 2022Article
- Genetic Determinants of Sudden Unexpected Death in Pediatrics.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.BMC medical genomics · 2022Article
- GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell genomics · 2021Article
- A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.American journal of medical genetics. Part A · 2021Article
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation.Journal of personalized medicine · 2021Article
- Predicting Genetic Variation Severity Using Machine Learning to Interpret Molecular Simulations.Biophysical journal · 2021Article
- Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.American journal of human genetics · 2020Article
- Variant classification changes over time in BRCA1 and BRCA2.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.Scientific reports · 2019Article
- Cytopostgenomics: What is it and how does it work?Current genomics · 2019Article
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.Genome medicine · 2019Article
- ClinGen's GenomeConnect registry enables patient-centered data sharing.Human mutation · 2018Article
- ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.Human mutation · 2018Article
- Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.Journal of genetic counseling · 2018Article
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Abstract
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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.