ArticleCell discovery2023
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Article in Cell discovery, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Machine Learning for Predicting Stroke Risk Stratification Using Multiomics Data: Systematic Review.Journal of medical Internet research · 2026Pooled it
- A NOTCH3 p.Gly1105Cys variant in CADASIL: clinical characterization and an updated overview of exon 20 variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- [Association analysis between genetic nurturing effects ofBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Article
- Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur.Human genetics · 2026Article
- Leukocyte Telomere Length and Its Polygenic Risk Score in Post-Stroke Cognitive Impairment: Evidence From a Multicenter Cohort Study.Brain and behavior · 2026Observational
- UK BioCoin: swift trait-specific summary statistics regression for UK Biobank.Nature communications · 2026Article
- Integrated multi-omics identifies macrophage ARG1-mediated deacetylation with causal and diagnostic implications in ischemic stroke.iScience · 2026Article
- China's innovation in translational medicine: rethinking early-stage clinical development.Nature biotechnology · 2026Article
- JAK2 pathogenic variants in ischemic stroke: low prevalence and pre-screening model.Journal of neurology · 2026Article
- Aquaporin-4 deficiency induced white matter injury via upregulated complement component 3 in cerebral small vessel disease.Journal of neuroinflammation · 2026Article
- Genetic diversity and differentiated adaptive strategies for underrepresented populations at the crossroad of Southeast and East Asia.BMC genomics · 2026Article
- Advances in genetics and multi-omics for ischemic stroke: from pathogenesis to clinical translation.Frontiers in genetics · 2026Review
- Artifical intelligence-powered delta-NIHSS-based model for predicting recurrence, disability and mortality after acute ischaemic strokes (DISCO): a modelling study.EClinicalMedicine · 2025Article
- Gain-of-function PPM1D mutations attenuate ischemic stroke.Cell death and differentiation · 2025Article
- GDBIG: A Pioneering Birth Cohort Genomic Platform Facilitating Intergenerational Genetic Research.Genomics, proteomics & bioinformatics · 2025Article
- Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning.Human genomics · 2025Article
- An efficient brain delivery system co-loaded with multiple components ofMaterials today. Bio · 2025Article
- Small Vessel Disease Phenotype Associated With MonoallelicNeurology · 2025Observational
- Bioinformatic insights into five Chinese population substructures inferred from the East Asian-specific AISNP panel.BMC genomics · 2025Article
- Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.Annals of neurology · 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
23 authors.
Funding
Abstract
Ischemic stroke is a leading cause of global mortality and long-term disability. However, there is a paucity of whole-genome sequencing studies on ischemic stroke, resulting in limited knowledge of the interplay between genomic and phenotypic variations among affected patients. Here, we outline the STROMICS design and present the first whole-genome analysis on ischemic stroke by deeply sequencing and analyzing 10,241 stroke patients from China. We identified 135.59 million variants, > 42% of which were novel. Notable disparities in allele frequency were observed between Chinese and other populations for 89 variants associated with stroke risk and 10 variants linked to response to stroke medications. We investigated the population structure of the participants, generating a map of genetic selection consisting of 31 adaptive signals. The adaption of the MTHFR rs1801133-G allele, which links to genetically evaluated VB9 (folate acid) in southern Chinese patients, suggests a gene-specific folate supplement strategy. Through genome-wide association analysis of 18 stroke-related traits, we discovered 10 novel genetic-phenotypic associations and extensive cross-trait pleiotropy at 6 lipid-trait loci of therapeutic relevance. Additionally, we found that the set of loss-of-function and cysteine-altering variants present in the causal gene NOTCH3 for the autosomal dominant stroke disorder CADASIL displayed a broad neuro-imaging spectrum. These findings deepen our understanding of the relationship between the population and individual genetic layout and clinical phenotype among stroke patients, and provide a foundation for future efforts to utilize human genetic knowledge to investigate mechanisms underlying ischemic stroke outcomes, discover novel therapeutic targets, and advance precision medicine.
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.