ReviewCurrent opinion in pediatrics2017
A primer to clinical genome sequencing.
Review in Current opinion in pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed.
- Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Review
- Prenatal exome and genome sequencing for fetal structural abnormalities.American journal of obstetrics and gynecology · 2023Review
- Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.Current transplantation reports · 2022Article
- GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.BMC medical genomics · 2022Article
- The Architecture of a Precision Oncology Platform.Advances in experimental medicine and biology · 2022Review
- Low-cost and cleanroom-free prototyping of microfluidic and electrochemical biosensors: Techniques in fabrication and bioconjugation.Biomicrofluidics · 2021Review
- Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies · 2021Article
- Molecular Autopsy of Sudden Cardiac Death in the Genomics Era.Diagnostics (Basel, Switzerland) · 2021Review
- Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia.Cold Spring Harbor molecular case studies · 2018Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
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
Abstract
purpose of reviewGenome sequencing is now available as a clinical diagnostic test. There is a significant knowledge and translation gap for nongenetic specialists of the processes necessary to generate and interpret clinical genome sequencing. The purpose of this review is to provide a primer on contemporary clinical genome sequencing for nongenetic specialists describing the human genome project, current techniques and applications in genome sequencing, limitations of current technology, and techniques on the horizon. RECENT
findingsAs currently implemented, genome sequencing compares short pieces of an individual's genome with a reference sequence developed by the human genome project. Genome sequencing may be used for obtaining timely diagnostic information, cancer pharmacogenomics, or in clinical cases when previous genetic testing has not revealed a clear diagnosis. At present, the implementation of clinical genome sequencing is limited by the availability of clinicians qualified for interpretation, and current techniques in used clinical testing do not detect all types of genetic variation present in a single genome. SUMMARY: Clinicians considering a genetic diagnosis have wide array of testing choices which now includes genome sequencing. Although not a comprehensive test in its current form, genome sequencing offers more information than gene-panel or exome sequencing and has the potential to replace targeted single-gene or gene-panel testing in many clinical scenarios.
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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.