ReviewNature reviews. Genetics2015
Human genotype-phenotype databases: aims, challenges and opportunities.
Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
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
59 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Variant effect predictors: a systematic review and practical guide.Human genetics · 2024Pooled it
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
- Integrative Harmonization of Phenotypic and Genomic Data Improves Bone Mineral Density Prediction in Multi-Study Osteoporosis Research.Genetic epidemiology · 2026Article
- Federated learning for the pathogenicity annotation of genetic variants in multi-site clinical settings.Bioinformatics (Oxford, England) · 2025Article
- Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.Life science alliance · 2025Article
- Article
- ProMENDA: an updated resource for proteomic and metabolomic characterization in depression.Translational psychiatry · 2024Article
- Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.Database : the journal of biological databases and curation · 2024Article
- FAIR Header Reference genome: a TRUSTworthy standard.Briefings in bioinformatics · 2024Article
- Therapeutic effect of iturin A onAntimicrobial agents and chemotherapy · 2024Article
- Inferring neurocognition using artificial intelligence on brain MRIs.Frontiers in neuroimaging · 2024Review
- Copy number variants and fetal structural abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study.BJOG : an international journal of obstetrics and gynaecology · 2024Article
- Genotype and phenotype data standardization, utilization and integration in the big data era for agricultural sciences.Database : the journal of biological databases and curation · 2023Review
- Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach.Brain : a journal of neurology · 2023Review
- Evolutionary Landscape ofGenes · 2023Article
- Identifying target organ location of Radix Achyranthis Bidentatae: a bioinformatics approach on active compounds and genes.Frontiers in pharmacology · 2023Article
- Chinese Medicine Phenomics (Chinmedphenomics): Personalized, Precise and Promising.Phenomics (Cham, Switzerland) · 2022Review
- [Rare-disease data standards].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2022Review
- Computational approaches for predicting variant impact: An overview from resources, principles to applications.Frontiers in genetics · 2022Review
- VariantStore: an index for large-scale genomic variant search.Genome biology · 2021Article
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.
Funding
Abstract
Genotype-phenotype databases provide information about genetic variation, its consequences and its mechanisms of action for research and health care purposes. Existing databases vary greatly in type, areas of focus and modes of operation. Despite ever larger and more intricate datasets--made possible by advances in DNA sequencing, omics methods and phenotyping technologies--steady progress is being made towards integrating these databases rather than using them as separate entities. The consequential shift in focus from single-gene variants towards large gene panels, exomes, whole genomes and myriad observable characteristics creates new challenges and opportunities in database design, interpretation of variant pathogenicity and modes of data representation and use.
Indexed as
Identifiers
26553330What 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.