GWAS Atlas (https://bigd.big.ac.cn/gwas/) is a manually curated resource of genome-wide variant-trait associations for a wide range of species. Unlike existing related resources, it features comprehensive integration of a high-quality collection of 75 467 variant-trait associations for 614 traits across 7 cultivated plants (cotton, Japanese apricot, maize, rapeseed, rice, sorghum and soybean) and two domesticated animals (goat and pig), which were manually curated from 254 publications. We integrated these associations into GWAS Atlas and presented them in terms of variants, genes, traits, studies and publications. More importantly, all associations and traits were annotated and organized based on a suite of ontologies (Plant Trait Ontology, Animal Trait Ontology for Livestock, etc.). Taken together, GWAS Atlas integrates high-quality curated GWAS associations for animals and plants and provides user-friendly web interfaces for data browsing and downloading, accordingly serving as a valuable resource for genetic research of important traits and breeding application.
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http://dx.doi.org/10.1093/nar/gkz828 | DOI Listing |
Nature
January 2025
The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California San Francisco, San Francisco, CA, USA.
The development of the human neocortex is highly dynamic, involving complex cellular trajectories controlled by gene regulation. Here we collected paired single-nucleus chromatin accessibility and transcriptome data from 38 human neocortical samples encompassing both the prefrontal cortex and the primary visual cortex. These samples span five main developmental stages, ranging from the first trimester to adolescence.
View Article and Find Full Text PDFHum Brain Mapp
January 2025
State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China.
Working memory (WM) plays a crucial role in human cognition. Previous candidate and genome-wide association studies have reported many genetic variations associated with WM. However, little research has examined genetic basis of WM by using transcriptome, even though it reflects gene function more directly than does the genome.
View Article and Find Full Text PDFMicroorganisms
November 2024
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Papillary thyroid cancer (PTC) is one of the fastest-growing cancers worldwide, lacking established causal factors or validated early diagnostics. Human endogenous retroviruses (HERVs), comprising 8% of human genomes, have potential as PTC biomarkers due to their comparably high baseline expression in healthy thyroid tissues, indicating homeostatic roles. However, HERV regions are often overlooked in genome-wide association studies because of their highly repetitive nature, low sequence coverage, and decreased sequencing quality.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Identifying cell types and brain regions critical for psychiatric disorders and brain traits is essential for targeted neurobiological research. By integrating genomic insights from genome-wide association studies with a comprehensive single-cell transcriptomic atlas of the adult human brain, we prioritized specific neuronal clusters significantly enriched for the SNP-heritabilities for schizophrenia, bipolar disorder, and major depressive disorder along with intelligence, education, and neuroticism. Extrapolation of cell-type results to brain regions reveals the whole-brain impact of schizophrenia genetic risk, with subregions in the hippocampus and amygdala exhibiting the most significant enrichment of SNP-heritability.
View Article and Find Full Text PDFSci Rep
December 2024
Precision Medicine Center, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510000, China.
Polyomavirus enhancer activator 3 (PEA3), an ETS transcription factor, has been documented to regulate the development and metastasis of human cancers. Nonetheless, a thorough analysis examining the relationship between the PEA3 subfamily members and tumour development, prognosis, and the tumour microenvironment (TME) across various cancer types has not yet been conducted. The expression profiles and prognostic significance of the PEA3 subfamily were evaluated using data from the GEO, TCGA, and PrognoScan databases, in conjunction with COX regression analyses and the Kaplan-Meier Plotter.
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