ArticleScience translational medicine2011
Deep sequencing of patient genomes for disease diagnosis: when will it become routine?
Article in Science translational medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 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.
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Who cites it
54 citing papers in PubMed.
- Public knowledge of and attitudes toward genetics and genetic testing.Genetic testing and molecular biomarkers · 2013Trial
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Unfolding the genetic map of monogenic liver diseases in Egypt.Human genetics · 2025Article
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.Human mutation · 2021Article
- Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.Frontiers in pediatrics · 2021Article
- Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis.The Journal of pediatrics · 2020Article
- The value of diagnostic testing for parents of children with rare genetic diseases.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- [Exome diagnostics in neurology].Der Nervenarzt · 2019Review
- Review
- Genome sequencing in the clinic: the past, present, and future of genomic medicine.Physiological genomics · 2018Review
- Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding.Journal of genetic counseling · 2017Article
- Multi-drug resistant Klebsiella pneumoniae strains circulating in hospital setting: whole-genome sequencing and Bayesian phylogenetic analysis for outbreak investigations.Scientific reports · 2017Article
- Cost analysis of whole genome sequencing in German clinical practice.The European journal of health economics : HEPAC : health economics in prevention and care · 2017Article
- DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Frontiers in molecular biosciences · 2017Review
- Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.European journal of human genetics : EJHG · 2016Article
- Comparison of genome sequencing and clinical genotyping for pharmacogenes.Clinical pharmacology and therapeutics · 2016Article
- Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2016Article
- Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.Journal of cardiovascular translational research · 2016Article
- Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,NPJ genomic medicine · 2016Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Next-generation sequencing technologies have greatly lowered the cost of whole-genome sequencing (WGS) and related approaches. Thus, comprehensive sequencing for diagnostic purposes may clear this financial hurdle in the near future. The report by Bainbridge and colleagues in this issue of Science Translational Medicine illustrates the diagnostic power of WGS. In this Perspective, we discuss whether and how genome sequencing might become routine for clinical diagnosis.
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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.