ReviewGenes2022
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.
Review in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 28 citations in OpenAlex.
- Caring for Rare Genetic Disease: A Vision for the Future.Journal of genetic counseling · 2026Article
- Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.European journal of human genetics : EJHG · 2026Article
- Federated, governed, and interoperable? The emerging architecture of public human genomic data infrastructures: a European perspective.Frontiers in genetics · 2026Review
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Loss of miRNA-Mediated VEGFA Regulation by SNP-Induced Impairment: A Bioinformatic Analysis in Diabetic Complications.Biomedicines · 2025Article
- Detection of antimicrobial resistance via state-of-the-art technologies versus conventional methods.Frontiers in microbiology · 2025Review
- The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model.Frontiers in public health · 2025Article
- Incidental genomic findings in large scale research: using the "3-I framework" to reveal policy considerations.Frontiers in genetics · 2025Article
- New Insights into Colorectal Cancer through the Lens of Precision Oncology and Personalized Medicine: Multi-Omics Helps Aging of Predisposed People.Current aging science · 2025Review
- Article
- The spectrum of TP53 mutations in Rwandan patients with gastric cancer.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2024Article
- A gene-culture co-evolutionary perspective on the puzzle of human twinship.Evolutionary human sciences · 2024Article
- The Future of Precision Oncology.International journal of molecular sciences · 2023Review
- Population monitoring of trisomy 21: problems and approaches.Molecular cytogenetics · 2023Review
- WGS Data Collections: How Do Genomic Databases Transform Medicine?International journal of molecular sciences · 2023Review
- Treatment of Femoral Shaft Pseudarthrosis, Case Series and Medico-Legal Implications.Journal of clinical medicine · 2022Article
- The Pioneer Advantage: Filling the blank spots on the map of genome diversity in Europe.GigaScience · 2022Article
- Combination of Whole Genome Sequencing and Metagenomics for Microbiological Diagnostics.International journal of molecular sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-generation sequencing (NGS), complex genomic analyses are now easier and cheaper than ever before, which consequently leads to more effective utilization of these techniques in clinical practice. However, interpretation of data from NGS is still challenging due to several issues caused by natural variability of DNA sequences in human populations. Therefore, development and realization of projects focused on description of genetic variability of local population (often called "national or digital genome") with a NGS technique is one of the best approaches to address this problem. The next step of the process is to share such data via publicly available databases. Such databases are important for the interpretation of variants with unknown significance or (likely) pathogenic variants in rare diseases or cancer or generally for identification of pathological variants in a patient's genome. In this paper, we have compiled an overview of published results of local genome sequencing projects from United Kingdom and Europe together with future plans and perspectives for newly announced ones.
Indexed as
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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.