ReviewHuman molecular genetics2010
Genetics of neurodegenerative diseases: insights from high-throughput resequencing.
Review in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 81 citations in OpenAlex.
- System-level hypothesis of dopamine imbalance in early multiple sclerosis.Frontiers in neurology · 2025Article
- Growth Factors and Their Application in the Therapy of Hereditary Neurodegenerative Diseases.Biomedicines · 2024Review
- Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.International journal of molecular sciences · 2024Review
- Article
- Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degenerations: Similarities in Genetic Background.Diagnostics (Basel, Switzerland) · 2021Review
- VPS35 Downregulation Alters Degradation Pathways in Neuronal Cells.Journal of Alzheimer's disease : JAD · 2021Article
- Suppression of Oxidative Stress as Potential Therapeutic Approach for Normal Tension Glaucoma.Antioxidants (Basel, Switzerland) · 2020Review
- Human pluripotent stem cell-derived models and drug screening in CNS precision medicine.Annals of the New York Academy of Sciences · 2020Review
- Frequency and signature of somatic variants in 1461 human brain exomes.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.Journal of neurology, neurosurgery, and psychiatry · 2018Article
- Biomedical informatics applications for precision management of neurodegenerative diseases.Alzheimer's & dementia (New York, N. Y.) · 2018Article
- Significance of long chain polyunsaturated fatty acids in human health.Clinical and translational medicine · 2017Review
- Common gene-network signature of different neurological disorders and their potential implications to neuroAIDS.PloS one · 2017Article
- Endocytic membrane trafficking and neurodegenerative disease.Cellular and molecular life sciences : CMLS · 2016Review
- The Effect of Ancestry and Genetic Variation on Lung Function Predictions: What Is "Normal" Lung Function in Diverse Human Populations?Current allergy and asthma reports · 2015Review
- Asthma pharmacogenetics and the development of genetic profiles for personalized medicine.Pharmacogenomics and personalized medicine · 2015Review
- Implications of population structure and ancestry on asthma genetic studies.Current opinion in allergy and clinical immunology · 2014Review
- iPS cell technologies: significance and applications to CNS regeneration and disease.Molecular brain · 2014Review
- Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013.Yonago acta medica · 2014Article
- Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.The Journal of allergy and clinical immunology · 2014Review
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
During the past three decades, we have witnessed remarkable advances in our understanding of the molecular etiologies of hereditary neurodegenerative diseases, which have been accomplished by 'positional cloning' strategies. The discoveries of the causative genes for hereditary neurodegenerative diseases accelerated not only the studies on the pathophysiologic mechanisms of diseases, but also the studies for the development of disease-modifying therapies. Genome-wide association studies (GWAS) based on the 'common disease-common variants hypothesis' are currently undertaken to elucidate disease-relevant alleles. Although GWAS have successfully revealed numerous susceptibility genes for neurodegenerative diseases, odds ratios associated with risk alleles are generally low and account for only a small proportion of estimated heritability. Recent studies have revealed that the effect sizes of the disease-relevant alleles that are identified based on comprehensive resequencing of large data sets of Parkinson disease are substantially larger than those identified by GWAS. These findings strongly argue for the role of the 'common disease-multiple rare variants hypothesis' in sporadic neurodegenerative diseases. Given the rapidly improving technologies of next-generation sequencing next-generation sequencing (NGS), we expect that NGS will eventually enable us to identify all the variants in an individual's personal genome, in particular, clinically relevant alleles. Beyond this, whole genome resequencing is expected to bring a paradigm shift in clinical practice, where clinical practice including diagnosis and decision-making for appropriate therapeutic procedures is based on the 'personal genome'. The personal genome era is expected to be realized in the near future, and society needs to prepare for this new era.
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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.