ArticleThe Journal of heredity
XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome.
Article in The Journal of heredity. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 6 of them syntheses that pooled it.
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Who cites it
85 citing papers in PubMed, 6 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- A contextual genomic perspective on physical activity and its relationship to health, well being and illness.Nature genetics · 2025Pooled it
- Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.Inflammatory bowel diseases · 2023Pooled it
- A systematic review of analytical methods used in genetic association analysis of the X-chromosome.Briefings in bioinformatics · 2022Pooled it
- Genetic factors influencing a neurobiological substrate for psychiatric disorders.Translational psychiatry · 2021Pooled it
- Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.Nature genetics · 2020Pooled it
- Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.Nature medicine · 2015Pooled it
- Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.Brain : a journal of neurology · 2026Article
- X chromosome association analyses using multiple models identifies 18 genetic loci influencing dietary intake in UK Biobank.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide association study identifies and validates genetic variation in the RIG-I/MAVS signaling pathway associated with HIV-related Kaposi sarcoma in children and adults.Frontiers in oncology · 2026Article
- A multifaceted analysis of OTUD5 integrated MAVS in innate immunity of Primary Biliary Cholangitis.PloS one · 2026Article
- X chromosome inactivation across primary human tissues is mostly complete, with significant implications for genetic and clinical studies.BMC genomics · 2025Article
- Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.Communications biology · 2025Article
- Methodological opportunities in genomic data analysis to advance health equity.Nature reviews. Genetics · 2025Review
- Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome.Blood advances · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.bioRxiv : the preprint server for biology · 2025Article
- The X chromosome's influences on the human brain.Science advances · 2025Article
- Chromosome X-wide common variant association study in autism spectrum disorder.American journal of human genetics · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.Translational medicine of aging · 2025Article
- Identifying X-chromosome variants associated with age-related macular degeneration.Human molecular genetics · 2024Article
- Genetic analysis of cognitive preservation in the midwestern Amish reveals a novel locus on chromosome 2.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
25 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
7 authors at 2 institutions in 1 country.
Funding
Abstract
XWAS is a new software suite for the analysis of the X chromosome in association studies and similar genetic studies. The X chromosome plays an important role in human disease and traits of many species, especially those with sexually dimorphic characteristics. Special attention needs to be given to its analysis due to the unique inheritance pattern, which leads to analytical complications that have resulted in the majority of genome-wide association studies (GWAS) either not considering X or mishandling it with toolsets that had been designed for non-sex chromosomes. We hence developed XWAS to fill the need for tools that are specially designed for analysis of X. Following extensive, stringent, and X-specific quality control, XWAS offers an array of statistical tests of association, including: 1) the standard test between a SNP (single nucleotide polymorphism) and disease risk, including after first stratifying individuals by sex, 2) a test for a differential effect of a SNP on disease between males and females, 3) motivated by X-inactivation, a test for higher variance of a trait in heterozygous females as compared with homozygous females, and 4) for all tests, a version that allows for combining evidence from all SNPs across a gene. We applied the toolset analysis pipeline to 16 GWAS datasets of immune-related disorders and 7 risk factors of coronary artery disease, and discovered several new X-linked genetic associations. XWAS will provide the tools and incentive for others to incorporate the X chromosome into GWAS and similar studies in any species with an XX/XY system, hence enabling discoveries of novel loci implicated in many diseases and in their sexual dimorphism.
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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.