ArticlePaediatrics & child health2018
Genome-wide sequencing technologies: A primer for paediatricians.
Article in Paediatrics & child health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed.
- Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.Frontiers in neurology · 2026Review
- Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.Paediatrics & child health · 2025Article
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.JAMA network open · 2024Article
- Article
- The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.Molecular genetics and metabolism reports · 2021Review
- Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.Italian journal of pediatrics · 2021Article
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
- Please give me a copy of my child's raw genomic data.NPJ genomic medicine · 2021Article
- Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.Frontiers in genetics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing has been a routine part of paediatic medicine for decades. Over time, the number of genetic tests available for children presenting with features thought to be explained by an underlying genetic aetiology has expanded considerably. Genome-wide sequencing approaches (e.g., whole-exome sequencing, whole-genome sequencing) are now emerging as the most comprehensive approaches to genetic diagnosis that we have seen to date; multiple serial tests that were once required for a child under diagnostic investigation can now be accomplished in a single assay. Moreover, the performance of this single assay appears to be superior to the sum of its parts. Despite this promise, technical, ethical and access-related complexities require considerable attention prior to the implementation of these tools in mainstream paediatrics. To ready paediatricians for the eventual transition to genome-based diagnostics, herein we review both the elements and delivery considerations of this emerging technology.
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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.