ReviewNeural regeneration research2021
Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing.
Review in Neural regeneration research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.Neurogenetics · 2025Pooled it
- Mendelian Randomization Analysis Reveals Iron as a Potential Contributor to Male Infertility.The world journal of men's health · 2026Article
- Micronutrients and polycystic ovary syndrome in the IEU OpenGWAS project: a two-Sample unidirectional Mendelian randomization analysis.Scientific reports · 2025Article
- Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.Journal of the neurological sciences · 2025Article
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 2025Article
- Diagnosis of hereditary ataxias: a real-world single center experience.Journal of neurology · 2025Article
- Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint.Genomics & informatics · 2024Review
- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
- Effect of trace elements and nutrients on 21 autoimmune diseases: a Mendelian randomization study.Frontiers in immunology · 2024Article
- Revolutionizing Neurological Disorder Treatment: Integrating Innovations in Pharmaceutical Interventions and Advanced Therapeutic Technologies.Current pharmaceutical design · 2024Review
- Association between copper and Achilles tendon disease: a two-sample Mendelian randomization study.Frontiers in nutrition · 2024Article
- Effect of trace elements and nutrients on diabetes and its complications: a Mendelian randomization study.Frontiers in nutrition · 2024Article
- Editorial: Whole Genome Sequencing for rare diseases.Frontiers in medicine · 2023Article
- Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.European journal of human genetics : EJHG · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in theNeurology. Genetics · 2021Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next generation sequencing is currently a cornerstone of genetic testing in routine diagnostics, allowing for the detection of sequence variants with so far unprecedented large scale, mainly in genetically heterogenous diseases, such as neurological disorders. It is a fast-moving field, where new wet enrichment protocols and bioinformatics tools are constantly being developed to overcome initial limitations. Despite the as yet undiscussed advantages, however, there are still some challenges in data analysis and the interpretation of variants. In this review, we address the current state of next generation sequencing diagnostic testing for inherited human disorders, particularly giving an overview of the available high-throughput sequencing approaches; including targeted, whole-exome and whole-genome sequencing; and discussing the main critical aspects of the bioinformatic process, from raw data analysis to molecular diagnosis.
Indexed as
Identifiers
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.