ReviewGenes2014
Delivery of a clinical genomics service.
Review in Genes, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.Frontiers in genetics · 2022Article
- Genetic testing and diagnosis of inherited retinal diseases.Orphanet journal of rare diseases · 2021Review
- Developing new frameworks to value genomic information: accounting for complexity.Personalized medicine · 2021Article
- Article
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.PloS one · 2019Article
- Clinical Relevance of Genomic Changes in Recurrent Pediatric Solid Tumors.Translational oncology · 2018Article
- Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists.British dental journal · 2018Article
- Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.Scientific reports · 2017Article
- Pathway and network analysis of cancer genomes.Nature methods · 2015Article
- Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.Journal of community genetics · 2015Article
- Personalized biochemistry and biophysics.Biochemistry · 2015Article
- Cellular and Molecular Mechanisms of Palatogenesis.Current topics in developmental biology · 2015Review
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the past five years, next generation sequencing has revolutionised the discovery of genes responsible for rare inherited diseases previously resistant to traditional discovery techniques. This review considers how this new technology is being introduced into clinical practice to aid diagnosis and improve the clinical management of individuals and families affected by rare diseases where access to genetic testing was previously limited. We compare and contrast the different approaches that have been adopted including panel based tests, exome and genome sequencing. We provide insights from our own clinical practice demonstrating the challenges and benefits of this new technology.
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.