ArticleHuman mutation2016
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 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
14 citing papers in PubMed.
- Genomics and multiomics in the age of precision medicine.Pediatric research · 2025Review
- Artificial intelligence in variant calling: a review.Frontiers in bioinformatics · 2025Review
- EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders.Frontiers in endocrinology · 2025Article
- A Combined Manual Annotation and Deep-Learning Natural Language Processing Study on Accurate Entity Extraction in Hereditary Disease Related Biomedical Literature.Interdisciplinary sciences, computational life sciences · 2024Article
- Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.Biotech (Basel (Switzerland)) · 2024Review
- Short loop functional commonality identified in leukaemia proteome highlights crucial protein sub-networks.NAR genomics and bioinformatics · 2021Article
- Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.Birth defects research · 2020Review
- First Responder to Genomic Information: A Guide for Primary Care Providers.Molecular diagnosis & therapy · 2019Review
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Human mutation · 2018Article
- ClinGen Allele Registry links information about genetic variants.Human mutation · 2018Article
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.Human mutation · 2018Article
- Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Genome medicine · 2017Article
- The current state of clinical interpretation of sequence variants.Current opinion in genetics & development · 2017Review
- Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.American journal of human genetics · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors.
Funding
Abstract
Revolutionary changes in sequencing technology and the desire to develop therapeutics for rare diseases have led to the generation of an enormous amount of genomic data in the last 5 years. Large-scale sequencing done in both research and diagnostic laboratories has linked many new genes to rare diseases, but has also generated a number of variants that we cannot interpret today. It is clear that we remain a long way from a complete understanding of the genomic variation in the human genome and its association with human health and disease. Recent studies identified susceptibility markers to infectious diseases and also the contribution of rare variants to complex diseases in different populations. The sequencing revolution has also led to the creation of a large number of databases that act as "keepers" of data, and in many cases give an interpretation of the effect of the variant. This interpretation is based on reports in the literature, prediction models, and in some cases is accompanied by functional evidence. As we move toward the practice of genomic medicine, and consider its place in "personalized medicine," it is time to ask ourselves how we can aggregate this wealth of data into a single database for multiple users with different goals.
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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.