ReviewNature reviews. Neurology2012
Whole-genome and whole-exome sequencing in neurological diseases.
Review in Nature reviews. Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 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
58 citing papers in PubMed.
- Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.PloS one · 2014Trial
- Cerebral metabolic patterns onEuropean journal of nuclear medicine and molecular imaging · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Brain metabolic imaging with 18 F-PET-CT and machine-learning clustering analysis reveal divergent metabolic phenotypes in patients with amyotrophic lateral sclerosis.European journal of nuclear medicine and molecular imaging · 2026Article
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- An integrative scoring approach for prioritization of rare autism spectrum disorder candidate variants from whole exome sequencing data.Scientific reports · 2025Article
- Emerging trends in virus and virus-like particle gene therapy delivery to the brain.Molecular therapy. Nucleic acids · 2024Review
- Multi-omics technologies and molecular biomarkers in brain tumor-related epilepsy.CNS neuroscience & therapeutics · 2024Review
- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
- Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.Dementia & neuropsychologia · 2023Review
- Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.Brain : a journal of neurology · 2022Article
- Stroke Genomics: Current Knowledge, Clinical Applications and Future Possibilities.Brain sciences · 2022Review
- Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.Neuromolecular medicine · 2021Review
- Differential Coassembly of α1-GABAThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Parkinson disease and the immune system - associations, mechanisms and therapeutics.Nature reviews. Neurology · 2020Review
- Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.Clinical and experimental pediatrics · 2020Article
- Feasibility of primary human cell cultures as a model for adamantinomatous craniopharyngioma research: Evidence from RNA-Seq analysis.Oncology letters · 2020Article
- Dissecting the Role of the FGF19-FGFR4 Signaling Pathway in Cancer Development and Progression.Frontiers in cell and developmental biology · 2020Review
- MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.Annals of clinical and translational neurology · 2020Article
- Further Delineation of theJournal of pediatric genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic risk factors that underlie many rare and common neurological disorders remain poorly understood because of the multifactorial and heterogeneous nature of these complex traits. With the decreasing cost of massively parallel sequencing technologies, whole-genome and whole-exome sequencing will soon allow the characterization of the full spectrum of sequence and structural variants present in each individual. Methods are being developed to parse the huge amount of genomic data and to sift out which variants are associated with diseases. Numerous challenges are inherent in the identification of rare and common variants that have a role in complex neurological diseases, and tools are being developed to overcome these challenges. Given that genomic data will soon be the main driver towards the goal of personalized medicine, future developments in the production and interpretation of data, as well as in ethics and counselling, will be needed for whole-genome and whole-exome sequencing to be used as informative tools in a clinical setting.
Indexed as
Identifiers
22847385What 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.