ArticleCMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne2021
Genome sequencing as a diagnostic test.
Article in CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review and critical analysis of the evidence for transmission ratio distortion in humans.Genetics · 2026Pooled it
- Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.Neurology · 2026Article
- Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study.Paediatrics & child health · 2026Article
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Multiple domains of efficacy define the utility of genetic testing.Pediatric research · 2025Article
- Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.Paediatrics & child health · 2025Article
- Article
- Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- S1- Leitlinie "Molekulargenetische Diagnostik mit Hochdurchsatz-Sequenzierverfahren (Massives Paralleles Sequenzieren, MPS)".Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
- A comparative medical genomics approach may facilitate the interpretation of rare missense variation.Journal of medical genetics · 2024Article
- The Role of Biomarkers in HPV-Positive Head and Neck Squamous Cell Carcinoma: Towards Precision Medicine.Diagnostics (Basel, Switzerland) · 2024Review
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.NPJ genomic medicine · 2024Review
- Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult.Cureus · 2024Article
- Germline whole genome sequencing in adults with multiple primary tumors.Familial cancer · 2023Article
- Review
- Article
- Ensuring timely genetic diagnosis in adults.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2023Article
- Pharmacogenetic profiling via genome sequencing in children with medical complexity.Pediatric research · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
What 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.