Results 1 to 10 of about 286,600 (201)
HyenaDNA: Long-Range Genomic Sequence Modeling at Single Nucleotide Resolution [PDF]
Neural Information Processing Systems, 2023 Genomic (DNA) sequences encode an enormous amount of information for gene regulation and protein synthesis. Similar to natural language models, researchers have proposed foundation models in genomics to learn generalizable features from unlabeled genome ...
Eric D Nguyen +12 more
semanticscholar +1 more source
The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs)
Journal of Immunological Research, 2022 Interleukins (ILs)—which are important members of cytokines—consist of a vast group of molecules, including a wide range of immune mediators that contribute to the immunological responses of many cells and tissues.
P. Behzadi +10 more
semanticscholar +1 more source
Acta Pharmaceutica Sinica B, 2019 Cytochrome P450 1A (CYP1A), one of the major CYP subfamily in humans, not only metabolizes xenobiotics including clinical drugs and pollutants in the environment, but also mediates the biotransformation of important endogenous substances.
Jian Lu +5 more
semanticscholar +1 more source
Single nucleotide polymorphisms and cancer susceptibility
OncoTarget, 2017 A large number of genes associated with various cancer types contain single nucleotide polymorphisms (SNPs). SNPs are located in gene promoters, exons, introns as well as 5'- and 3'- untranslated regions (UTRs) and affect gene expression by different ...
N. Deng +3 more
semanticscholar +1 more source
Exploring the Impact of Single-Nucleotide Polymorphisms on Translation
Frontiers in Genetics, 2018 Over the past 15 years, sequencing of the human genome and The Cancer Genome Atlas (TCGA) project have led to comprehensive lists of single-nucleotide polymorphisms (SNPs) and gene mutations across a large number of human samples. However, our ability to
F. Robert, J. Pelletier
semanticscholar +1 more source
High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing
Nature Communications, 2018 Functional characterization of disease-causing variants at risk loci has been a significant challenge. Here we report a high-throughput single-nucleotide polymorphisms sequencing (SNPs-seq) technology to simultaneously screen hundreds to thousands of ...
P. Zhang +16 more
semanticscholar +1 more source
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms in IL8 gene
Scientific Reports, 2017 Here we report an in-silico approach for identification, characterization and validation of deleterious non-synonymous SNPs (nsSNPs) in the interleukin-8 gene using three steps.
T. C. Dakal +5 more
semanticscholar +1 more source
Single Nucleotide Polymorphisms and Osteoarthritis
Medicine, 2016 Osteoarthritis (OA) is a complex disorder characterized by degenerative articular cartilage and is largely attributed to genetic risk factors. Single nucleotide polymorphisms (SNPs) are common DNA variants that have shown promising and efficiency ...
Ting Wang +11 more
semanticscholar +1 more source
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Human Genomics, 2014 As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant upon computational prediction algorithms ...
Hashem A. Shihab +5 more
semanticscholar +1 more source
PLoS Genetics, 2014 Traditional genetic association studies are very difficult in bacteria, as the generally limited recombination leads to large linked haplotype blocks, confounding the identification of causative variants.
C. Chewapreecha +12 more
semanticscholar +1 more source