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A central task in expression quantitative trait locus analysis is to identify cis-eGenes, i.e., genes whose expression levels are regulated by at least one local genetic variant. Existing cis-eGene identification methods are either computationally expensive, requiring thousands of permutations per gene (FastQTL), or statistically underpowered (eigenMT and TreeQTL). We propose ClipperQTL, which requires only one permutation for data sets with large sample sizes (>450; ClipperQTL works on smaller data sets too). We show that ClipperQTL performs as well as FastQTL and runs up to 500 times faster. The R package ClipperQTL is available at https://github.com/heatherjzhou/ClipperQTL .
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http://dx.doi.org/10.1186/s13059-025-03662-y | DOI Listing |
Leukemia
September 2025
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA, USA.
Pediatric acute myeloid leukemia (pAML) is a heterogeneous malignancy driven by diverse cytogenetic mutations. While identification of cytogenetic lesions improved risk stratification, prognostication remains inadequate with 30% of standard-risk patients experiencing relapse within 5 years. To deeply characterize pAML heterogeneity and identify poor outcome-associated blast cell profiles, we performed an analysis on 708,285 cells from 164 bone marrow biopsies of 95 patients and 11 healthy controls.
View Article and Find Full Text PDFGenome Res
September 2025
College of Life Science, Sichuan Agricultural University, Ya'an, 625014, People's Republic of China;
Poultry egg production is shaped by the intertwined action of multiple physiological systems, greatly magnifying the complexity of its underlying genetic regulation. Although multitissue mapping of regulatory variants offers a powerful route to untangle this complexity, comprehensive data sets in ducks remain scarce. Meanwhile, the contributions of peripheral systems beyond neuroendocrine regulation on poultry egg production are still largely unexplored.
View Article and Find Full Text PDFJ Chem Inf Model
September 2025
Department of Chemistry, Delaware State University, Dover, Delaware 19901, United States.
The calculation of the highest occupied molecular orbital-lowest unoccupied molecular orbital (HOMO-LUMO) gap for chemical molecules is computationally intensive using quantum mechanics (QM) methods, while experimental determination is often costly and time-consuming. Machine Learning (ML) offers a cost-effective and rapid alternative, enabling efficient predictions of HOMO-LUMO gap values across large data sets without the need for extensive QM computations or experiments. ML models facilitate the screening of diverse molecules, providing valuable insights into complex chemical spaces and integrating seamlessly into high-throughput workflows to prioritize candidates for experimental validation.
View Article and Find Full Text PDFPLoS One
September 2025
University of Groningen, Centre for Isotope Research, Groningen, the Netherlands.
The huge volcanic eruption at Thera (Santorini), situated in the Aegean Sea, occurred within the Late Minoan IA archaeological period. However, its temporal association with Egyptian history has long been a controversial subject. Traditionally, the eruption was placed in the early 18th Dynasty, associated with Pharaoh Thutmose III as the youngest option or with Pharaoh Nebpehtire Ahmose as the oldest possibility.
View Article and Find Full Text PDFPsychopharmacology (Berl)
September 2025
Institute of Cardiovascular Research, Sleep Medical Center, Department of Psychiatry, Fundamental and Clinical Research on Mental Disorders Key Laboratory of Luzhou, Affiliated Hospital, Southwest Medical University, Luzhou, Sichuan Province, 646000, China.
Rationale: Genome-wide association studies (GWASs) are used to identify genetic variants for association with schizophrenia (SCZ) risk; however, each GWAS can only reveal a small fraction of this association.
Objectives: This study systematically analyzed multiple GWAS data sets to identify gene subnetwork and pathways associated with SCZ.
Methods: We identified gene subnetwork using dmGWAS program by combining SCZ GWASs and a human interaction network, performed gene-set analysis to test the association of gene subnetwork with clinical symptom scores and disease state, meanwhile, conducted spatiotemporal and tissue-specific expression patterns and cell-type-specific analysis of genes in the subnetwork.