ArticleBioinformatics (Oxford, England)2023
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics.
Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 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
58 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.American journal of human genetics · 2026Pooled it
- Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.American journal of human genetics · 2026Pooled it
- Prediction of human missense variant effects from functional evidence.Nature genetics · 2026Article
- Financial Toxicity Among Disaggregated Asian American Cancer Survivors.JAMA network open · 2026Article
- Intragenic deletions from whole genome sequencing of 1054 suicide deaths.Research square · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in theResearch square · 2026Article
- Aortic Geometric Atlas: Centile-Based Reference Charts and Pathological Signatures Across the Adult Lifespan.medRxiv : the preprint server for health sciences · 2026Article
- Integrating social determinants of health and genetic risk in disease risk models.American journal of human genetics · 2026Article
- Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.Kidney international reports · 2026Article
- Neonatal Outcomes Following Selective Serotonin Reuptake Inhibitor Use During Pregnancy.JAMA network open · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in themedRxiv : the preprint server for health sciences · 2026Article
- Genetically supported drug target prioritization for rare diseases.Genome medicine · 2026Article
- Phenome-wide analysis of downstream health outcomes following second-line antidiabetic agent prescriptions in All of Us.Nature communications · 2026Article
- A phenotype-to-mechanism framework links phenome-wide comorbidity architecture to molecular mechanisms and therapeutic discovery in complex diseases.medRxiv : the preprint server for health sciences · 2026Article
- Systematic common and rare variant association testing in 392,030 whole genomes inmedRxiv : the preprint server for health sciences · 2026Article
- Article
- Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis.BMC genomics · 2026Article
- Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.Biomolecules · 2026Review
- Making sleep behaviors interpretable: adapting the two-process model of sleep regulation to longitudinal Fitbit sleep and activity behaviors for health insights.medRxiv : the preprint server for health sciences · 2026Article
- Patterns and Clinical Outcomes of Physical Activity and Sedentary Behavior Across 20 Million Days of Wearable Monitoring in U.S. Adults.medRxiv : the preprint server for health sciences · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors.
Funding
Abstract
motivationPhecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.
resultsHere, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research. AVAILABILITY AND IMPLEMENTATION: phecodeX is available at https://github.com/PheWAS/phecodeX.
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.