ArticleEuropean journal of human genetics : EJHG2016
A pathway-centric approach to rare variant association analysis.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.Cell genomics · 2026Article
- Multi-omics identifies oxidative stress, prothrombotic pathways, and lactoperoxidase variants as key factors in COVID-19 severity.EBioMedicine · 2026Article
- Low-frequency inherited complement receptor variants are associated with purpura fulminans.Blood · 2024Article
- Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021Article
- Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus.Journal of medical genetics · 2021Review
- Network propagation of rare variants in Alzheimer's disease reveals tissue-specific hub genes and communities.PLoS computational biology · 2021Article
- Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.Annals of the rheumatic diseases · 2021Article
- Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Multi-Set Testing Strategies Show Good Behavior When Applied to Very Large Sets of Rare Variants.Frontiers in genetics · 2020Article
- Benefits and Challenges of Rare Genetic Variation in Alzheimer's Disease.Current genetic medicine reports · 2019Article
- A weighted burden test using logistic regression for integrated analysis of sequence variants, copy number variants and polygenic risk score.European journal of human genetics : EJHG · 2019Article
- IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.Nature communications · 2018Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally relevant genes together. Conventional filtering approaches for rare variant analysis are based on variant consequence and are therefore confined to coding regions of the genome. Therefore, we undertook a novel approach to this process by obtaining functional annotations from the Combined Annotation Dependent Depletion (CADD) tool, which allowed potentially deleterious variants from intronic regions of genes to be incorporated into analyses. This work was undertaken using whole-genome sequencing data from the UK10K project. Rare variants from the KEGG pathway for arginine and proline metabolism were collectively associated with systolic blood pressure (P=3.32x10
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