ArticleNPJ genomic medicine2024
Characterizing the pathogenicity of genetic variants: the consequences of context.
Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed.
- A heritability-optimized method for functional prioritization of rare coding variants in complex traits.Nature genetics · 2026Article
- Population-Stratified Human Genetic Studies Are Not Eugenics: A Response to Donohue and Myles.Bioethics · 2026Article
- The GPCRDiabetologia · 2026Article
- Prediction of human missense variant effects from functional evidence.Nature genetics · 2026Article
- Divergent biological consequences of APOE isoforms across industrialized and non-industrial environments.PLoS genetics · 2026Article
- Genetic background shapes AI-predicted variant effects.bioRxiv : the preprint server for biology · 2026Article
- Deleterious coding variation associated with autism is shared across ancestries.Nature medicine · 2026Article
- A damaging mutation in COL6A3 alters the mechanobiologic response of chondrocytes derived from human induced pluripotent stem cells.Stem cell research & therapy · 2026Article
- To Calculate the Nationwide Incidence/Prevalence Figures for Charcot-Marie-Tooth Disease, the Entire Population Must be Screened.Neurosciences (Riyadh, Saudi Arabia) · 2026Article
- Deep DNA and protein level feature integration for robust clinical variant interpretation using probabilistic gradient boosting.Frontiers in digital health · 2026Article
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Systemic barriers and opportunities for equity in early implementation of genetic testing and counseling for cardiomyopathies in Tanzania.Communications medicine · 2025Review
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Prediction of human missense variant effects from functional evidence.Research square · 2025Article
- Perceptions of family health history in an East Baltimore community.Journal of community genetics · 2025Article
- varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction.Genome medicine · 2025Article
- Pathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in trans.Intractable & rare diseases research · 2025Article
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.IUBMB life · 2025Review
- Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.International journal of molecular sciences · 2025Article
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.
Funding
Abstract
PubMed holds no abstract for this paper.
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.