SynthesisBriefings in bioinformatics2022
A systematic review of analytical methods used in genetic association analysis of the X-chromosome.
Synthesis in Briefings in bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- X chromosome association analyses using multiple models identifies 18 genetic loci influencing dietary intake in UK Biobank.bioRxiv : the preprint server for biology · 2026Article
- Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.MedScience · 2026Article
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- On the analysis of genetic association with long-read sequencing data.PLoS genetics · 2025Article
- Sex Bias in Autoimmunity: New Findings and New Opportunities.JID innovations : skin science from molecules to population health · 2025Review
- Sex-specific genetics underlie increased chronic pain risk in women: genome-wide association studies from the UK Biobank.British journal of anaesthesia · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.bioRxiv : the preprint server for biology · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.Translational medicine of aging · 2025Article
- Hepatic immune regulation and sex disparities.Nature reviews. Gastroenterology & hepatology · 2024Review
- Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues.Cell genomics · 2024Article
- Eight quick tips for including chromosome X in genome-wide association studies.PLoS computational biology · 2024Article
- An eQTL-based approach reveals candidate regulators of LINE-1 RNA levels in lymphoblastoid cells.PLoS genetics · 2024Article
- OR11H1 Missense Variant Confers the Susceptibility to Vogt-Koyanagi-Harada Disease by Mediating Gadd45g Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Comprehensive whole-genome analyses of the UK Biobank reveal significant sex differences in both genotype missingness and allele frequency on the X chromosome.Human molecular genetics · 2024Article
- An eQTL-based Approach Reveals Candidate Regulators of LINE-1 RNA Levels in Lymphoblastoid Cells.bioRxiv : the preprint server for biology · 2023Article
- An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease.bioRxiv : the preprint server for biology · 2023Article
- New horizons of human genetics in digestive diseases.eGastroenterology · 2023Article
- Review
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Authors and funding
4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Genetic association studies have been very successful at elucidating the genetic background of many complex diseases/traits. However, the X-chromosome is often neglected in these studies because of technical difficulties and the fact that most tools only utilize genetic data from autosomes. In this review, we aim to provide an overview of different practical approaches that are followed to incorporate the X-chromosome in association analysis, such as Genome-Wide Association Studies and Expression Quantitative Trait Loci Analysis. In general, the choice of which test statistics is most appropriate will depend on three main criteria: (1) the underlying X-inactivation model, (2) if Hardy-Weinberg equilibrium holds and sex-specific allele frequencies are expected and (3) whether adjustment for confounding variables is required. All in all, it is recommended that a combination of different association tests should be used for the analysis of X-chromosome.
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