ArticleGenetic epidemiology2013
Multiple genetic variant association testing by collapsing and kernel methods with pedigree or population structured data.
Article in Genetic epidemiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Methods for association analysis and meta-analysis of rare variants in families.Genetic epidemiology · 2015Pooled it
- MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.American journal of human genetics · 2026Article
- Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families.Scientific reports · 2025Article
- RetroFun-RVS: A Retrospective Family-Based Framework for Rare Variant Analysis Incorporating Functional Annotations.Genetic epidemiology · 2025Article
- Review
- JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression.American journal of human genetics · 2024Article
- Article
- JASPER: fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression.bioRxiv : the preprint server for biology · 2023Article
- Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data.PLoS computational biology · 2023Article
- Simultaneous selection of multiple important single nucleotide polymorphisms in familial genome wide association studies data.Scientific reports · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
- Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study.American journal of human genetics · 2022Article
- Recent advances and challenges of rare variant association analysis in the biobank sequencing era.Frontiers in genetics · 2022Review
- Article
- Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.European urology · 2021Article
- Associating Multivariate Traits with Genetic Variants Using Collapsing and Kernel Methods with Pedigree- or Population-Based Studies.Computational and mathematical methods in medicine · 2021Article
- Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration.Journal of the American Statistical Association · 2021Article
- Gene-Based Association Mapping for Dental Caries in The GENEVA Consortium.Journal of dentistry and dental medicine · 2020Article
- Polymorphisms in the Human Aquaporin 4 Gene Are Associated With Schizophrenia in the Southern Chinese Han Population: A Case-Control Study.Frontiers in psychiatry · 2020Article
- Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2019Article
5 more citing papers are in PubMed but not listed here.
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
Searching for rare genetic variants associated with complex diseases can be facilitated by enriching for diseased carriers of rare variants by sampling cases from pedigrees enriched for disease, possibly with related or unrelated controls. This strategy, however, complicates analyses because of shared genetic ancestry, as well as linkage disequilibrium among genetic markers. To overcome these problems, we developed broad classes of "burden" statistics and kernel statistics, extending commonly used methods for unrelated case-control data to allow for known pedigree relationships, for autosomes and the X chromosome. Furthermore, by replacing pedigree-based genetic correlation matrices with estimates of genetic relationships based on large-scale genomic data, our methods can be used to account for population-structured data. By simulations, we show that the type I error rates of our developed methods are near the asymptotic nominal levels, allowing rapid computation of P-values. Our simulations also show that a linear weighted kernel statistic is generally more powerful than a weighted "burden" statistic. Because the proposed statistics are rapid to compute, they can be readily used for large-scale screening of the association of genomic sequence data with disease status.
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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.