ReviewAnnals of the New York Academy of Sciences2016
Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Review in Annals of the New York Academy of Sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed.
- Whole exome sequencing as a screening tool in dogs: A pilot study.Computational and structural biotechnology journal · 2025Article
- Can long-read sequencing tackle the barriers, which the next-generation could not? A review.Pathology oncology research : POR · 2024Review
- Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis.Frontiers in public health · 2022Article
- Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.Frontiers in neurology · 2022Article
- A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.Human mutation · 2020Article
- Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.Cerebellum (London, England) · 2019Article
- Clinical application of next-generation sequencing to the practice of neurology.The Lancet. Neurology · 2019Review
- Article
- Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.American journal of human genetics · 2018Article
- Prevalence of spinocerebellar ataxia 36 in a US population.Neurology. Genetics · 2017Article
- The need to develop a patient-centered precision medicine model for adults with chronic disability.Expert review of molecular diagnostics · 2017Article
- The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.Translational neurodegeneration · 2017Review
- Clinical exome sequencing in neurologic disease.Neurology. Clinical practice · 2016Review
- Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?Asian journal of andrologyReview
- Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.Movement disorders clinical practiceArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Exome sequencing has recently been elevated to the standard of care for genetic diagnostic testing, particularly for genetically diverse and clinically heterogeneous disorders. This review provides a clinically oriented discussion of the next-generation sequencing technology that makes exome sequencing possible and how such technology is applied to the diagnosis of Mendelian disease, including clinically significant de novo variation, interpretation of variants of uncertain clinical significance, the future potential for genetic assessments of disease risk, and the substantial benefits in diagnostic efficiency. Important caveats are also discussed, including the implications of incidental or secondary findings detected during exome sequencing and the relationship of exome sequencing to other methods of clinical genomic testing, such as chromosomal microarray and genome sequencing. Overall, the widespread adoption and use of exome sequencing in routine clinical practice is expected to improve diagnosis rates and reduce test costs, while leading to improvements in patient outcomes and a renewed emphasis on disease management.
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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.