Quantitative Trait Loci
Showing 71 to 80 of 98 articles
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Science (New York, N.Y.)
Dec 18, 2014
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
Child Development Disorders, Pervasive
Colorectal Neoplasms, Hereditary Nonpolyposis
Muscular Atrophy, Spinal
Exons
Mutation, Missense
Genetic Code
Quantitative Trait Loci
MutL Protein Homolog 1
RNA Splicing
Nuclear Proteins
RNA Splice Sites
Genome-Wide Association Study
Adaptor Proteins, Signal Transducing
Genetic Markers
Humans
Polymorphism, Single Nucleotide
DNA
Genetic Variation
Artificial Intelligence
RNA-Binding Proteins
Molecular Sequence Annotation
Computer Simulation
Models, Genetic
Introns
Genetic Control of tRNA-Derived Fragments Contributes to Cancer Risk.
Cancer research
Oct 15, 2025
UNLABELLED: tRNA-derived fragments (tRF) are a class of small noncoding RNAs that have exhibited several functions in cancer. Recent studies have shown that mutations in tRNA genes can lead to global changes in tRF expression levels and may affect tR...
Mapping QTLs for PHS resistance and development of a deep learning model to measure PHS rate in japonica rice.
The plant genome
Sep 1, 2025
Rice (Oryza sativa L.) is a staple food for more than half of the global population. Preharvest sprouting (PHS), which reduces yield and grain quality, presents a major challenge for rice production. The development of PHS-resistant varieties is a ma...
Identification of hub genes involved in the pathogenesis of diabetic nephropathy: A multi-omics study integrating machine learning, mendelian randomization and mediation analysis.
Diabetes, obesity & metabolism
Sep 1, 2025
BACKGROUND: Diabetic nephropathy (DN), affecting 30%-40% of diabetic patients, is the leading cause of end-stage renal disease worldwide. This study aims to identify diagnostic biomarkers and explore potential gene-metabolite interactions in DN patho...
Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.
Annals of the rheumatic diseases
Aug 1, 2025
OBJECTIVES: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to iden...
Genomics-assisted breeding for designing salinity-smart future crops.
Plant biotechnology journal
Aug 1, 2025
Climate change induces many abiotic stresses, including soil salinity, significantly challenging global agriculture. Salinity stress tolerance (SST) is a complex trait, both physiologically and genetically, and is conferred at various levels of plant...
Environment ensemble models for genomic prediction in common bean (Phaseolus vulgaris L.).
The plant genome
Jun 1, 2025
For important food crops such as the common bean (Phaseolus vulgaris, L.), global demand continues to outpace the rate of genetic gain for quantitative traits. In this study, we leveraged the multi-environment trial (MET) dataset from the cooperative...
Integration of machine learning and genome-wide association study to explore the genomic prediction accuracy of agronomic trait in oats (Avena sativa L.).
The plant genome
Mar 1, 2025
Machine learning (ML) has garnered significant attention for its potential to enhance the accuracy of genomic predictions (GPs) in various economic crops with the use of complete genomic information. Genome-wide association studies (GWAS) are widely ...
Assessing the performance of generative artificial intelligence in retrieving information against manually curated genetic and genomic data.
Database : the journal of biological databases and curation
Feb 17, 2025
Curated resources at centralized repositories provide high-value service to users by enhancing data veracity. Curation, however, comes with a cost, as it requires dedicated time and effort from personnel with deep domain knowledge. In this paper, we ...
Deep learning-based classifier for carcinoma of unknown primary using methylation quantitative trait loci.
Journal of neuropathology and experimental neurology
Feb 1, 2025
Cancer of unknown primary (CUP) constitutes between 2% and 5% of human malignancies and is among the most common causes of cancer death in the United States. Brain metastases are often the first clinical presentation of CUP; despite extensive patholo...
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