ReviewEssays in biochemistry2018
The genetic basis of disease.
Review in Essays in biochemistry, 2018. 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 133 papers, 1 of them a synthesis 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
133 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Improved nucleic acid sensing, exemplified using pure target DNA sequences, by MO capture probes compared to DNA capture probes, as revealed from PORSC advances · 2026Article
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Article
- Public Awareness of Genetic Diseases, Preventive Screening, and Genetic Healthcare Services in the Qassim Region, Saudi Arabia: A Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2026Article
- Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.Journal of community genetics · 2026Article
- A review of congenital anomalies of the kidney and urinary tract (CAKUT) in Africa.Annals of medicine and surgery (2012) · 2026Review
- Best practices for improving alignment and variant calling on human sex chromosomes.American journal of human genetics · 2026Article
- Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis.Molecular syndromology · 2026Article
- Comparison of two-stage methods for count data in Mendelian randomization: a simulation study.Journal of comparative effectiveness research · 2026Article
- Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.Molecular syndromology · 2026Article
- Decoding the dark genome reveals its organisation into modular disease networks.Scientific reports · 2026Article
- On the topical issue of assisted dying: the insurmountable challenges of human existence, and the right to exit.Frontiers in public health · 2026Article
- Research on the Mechanism of "Cold Tumor" Formation and Immunotherapy for Its Transformation into "Hot Tumor".Oncology research · 2026Review
- Advancing precision medicine with bioelectroanalytical technologies leveraging unconventional nucleic acid forms.Analytical and bioanalytical chemistry · 2026Review
- Gapmers: Invention and Early History.Methods in molecular biology (Clifton, N.J.) · 2026Review
- ICAFS: Inter-Client-Aware Feature Selection for Vertical Federated Learning.IEEE transactions on artificial intelligence · 2025Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT).Environmental and molecular mutagenesis · 2025Review
- High-throughput screens identify genotype-specific therapeutics for channelopathies.JCI insight · 2025Article
73 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.
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.