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Summary: Estimating linkage disequilibrium (LD) is essential for a wide range of summary statistics-based association methods for genome-wide association studies. Large genetic datasets, e.g. the TOPMed WGS project and UK Biobank, enable more accurate and comprehensive LD estimates, but increase the computational burden of LD estimation. Here, we describe emeraLD (Efficient Methods for Estimation and Random Access of LD), a computational tool that leverages sparsity and haplotype structure to estimate LD up to 2 orders of magnitude faster than current tools.
Availability And Implementation: emeraLD is implemented in C++, and is open source under GPLv3. Source code and documentation are freely available at http://github.com/statgen/emeraLD.
Supplementary Information: Supplementary data are available at Bioinformatics online.
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http://dx.doi.org/10.1093/bioinformatics/bty547 | DOI Listing |
Medicine (Baltimore)
September 2025
Second Department of Neurology, Affiliated Hospital of Inner Mongolia Minzu University, Tongliao, China.
Observational studies have reported inconsistent links between tea intake and stroke risk. We applied two-sample Mendelian randomization (MR) to clarify whether the association is causal. Following STROBE-MR guidelines, we extracted genome-wide association study (GWAS) summary statistics for tea intake (UK Biobank, n = 447,485; GWAS ID ukb-b-6066) and stroke (UK Biobank, n = 462,933; GWAS ID ukb-b-6358), both of European ancestry.
View Article and Find Full Text PDFJ Therm Biol
September 2025
Hainan Key Laboratory of Tropical Animal Reproduction & Breeding and Epidemic Disease Research, School of Tropical Agriculture and Forestry, Hainan University, Haikou, 570228, China. Electronic address:
In light of the challenges posed by global climate change, the environmental adaptability of organisms is becoming increasingly important. The Wuzhishan (WZS) pig, tolerant to high heat and humidity, is an ideal model for genomic study. By characterizing its genome and assessing its genetic diversity and runs of homozygosity (ROH), we can gain insights into its current conservation status and genomic architecture.
View Article and Find Full Text PDFBiomol Biomed
September 2025
Clinical Research Directorate, Ignacio Chávez National Institute of Cardiology, Mexico City, Mexico.
Rheumatoid arthritis (RA) is a chronic autoimmune disease in which dysregulated interferon regulatory factor 5 (IRF5) may amplify pro-inflammatory pathways; prior genetic studies of IRF5 single-nucleotide variants (SNVs) in RA are inconsistent across populations and have not included mestizo Mexicans or evaluated rs59110799 in RA. We aimed to test whether four IRF5 SNVs (rs2004640G/T, rs2070197T/C, rs10954213G/A, rs59110799G/T) confer susceptibility to RA in women from Central Mexico. In a case-control study of 239 women with RA and 231 female controls (all self-identified Mexican-Mestizos, ≥3 generations), genotyping was performed by real-time PCR with TaqMan® probes; 80% of samples were duplicated (100% concordance) and control genotypes conformed to Hardy-Weinberg equilibrium.
View Article and Find Full Text PDFJBMR Plus
October 2025
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.
Genome-wide association studies (GWAS) relevant to osteoporosis have identified hundreds of loci; however, understanding how these variants influence the phenotype is complicated because most reside in non-coding DNA sequence that serves as transcriptional enhancers and repressors. To advance knowledge on these regulatory elements in osteoclasts (OCs), we performed Micro-C analysis, which informs on the genome topology of these cells and integrated the results with transcriptome and GWAS data to further define loci linked to BMD. Using blood cells isolated from 4 healthy participants aged 31-61 yr, we cultured OC in vitro and generated a Micro-C chromatin conformation capture dataset.
View Article and Find Full Text PDFInt J Chron Obstruct Pulmon Dis
September 2025
Department of Respiratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou City, Jiangxi Province, People's Republic of China.
Background: Chronic obstructive pulmonary disease (COPD) frequently co-occurs with autoimmune diseases (ADs), yet their shared genetic basis remains incompletely understood. This study aimed to evaluate genetic correlations between COPD and seven ADs and identify shared genetic risk loci underlying this comorbidity.
Methods: We integrated summary statistics from large-scale genome-wide association studies (GWAS) of COPD and seven ADs in European populations.