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Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24399
Abstract: The recent identification of noncoding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagnosed cases. Several computational methods have been developed to predict the functional impact of noncoding variants,…
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Keywords:
annotation tools;
dbmir prioritization;
mirlog dbmir;
prioritization functional ... See more keywords
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Published in 2021 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1170-8_3
Abstract: MicroRNAs (miRNAs) are endogenous small noncoding RNAs that are involved in most biological signaling pathways, including the cell cycle, apoptosis, proliferation, immune response, metabolism as well as in biological processes including organ development and in…
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Keywords:
annotation micrornas;
existing resources;
functional annotation;
biology ... See more keywords
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Published in 2018 at "3 Biotech"
DOI: 10.1007/s13205-018-1520-8
Abstract: Gene expression pattern of a failing heart depicts remarkable similarity with developing fetal heart. Elucidating genetic as well as epigenetic mechanisms regulating the gene expression during cardiac development will improve our understanding of cardiovascular diseases.…
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Keywords:
functional annotation;
fetal cardiac;
differentially expressed;
gene ... See more keywords
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Published in 2018 at "Cancer cell"
DOI: 10.1016/j.ccell.2018.01.021
Abstract: The functional impact of the vast majority of cancer somatic mutations remains unknown, representing a critical knowledge gap for implementing precision oncology. Here, we report the development of a moderate-throughput functional genomic platform consisting of…
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Keywords:
functional annotation;
annotation somatic;
somatic mutations;
mutations cancer ... See more keywords
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Published in 2019 at "International journal of biological macromolecules"
DOI: 10.1016/j.ijbiomac.2018.11.100
Abstract: Methanothermobacter thermautotrophicus ΔH (MTH) is a potential methanogen known to reduce CO2 with H2 for producing methane biofuel in thermophilic digesters. The genome of this organism contains ~50.5% conserved hypothetical proteins (HPs; operome) whose function…
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Keywords:
functional annotation;
methanothermobacter thermautotrophicus;
annotation operome;
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Published in 2019 at "Journal of Molecular Biology"
DOI: 10.1016/j.jmb.2019.06.003
Abstract: The control of ion channel permeation requires the modulation of energetic barriers or “gates” within their pores. However, such barriers are often simply identified from the physical dimensions of the pore. Such approaches have worked…
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Keywords:
ion channel;
functional annotation;
chap versatile;
channel ... See more keywords
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Published in 2018 at "Genomics"
DOI: 10.1016/j.ygeno.2018.05.022
Abstract: Spore forming Bacillus species are widely used as probiotics for human dietary supplements and in animal feeds. However, information on genetic basis of their probiotic action is obscure. Therefore, the present investigation was undertaken to…
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Keywords:
coagulans hs243;
hs243 genome;
functional annotation;
genome ... See more keywords
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Published in 2017 at "Nature chemical biology"
DOI: 10.1038/nchembio.2436
Abstract: Chemical-genetic approaches offer the potential for unbiased functional annotation of chemical libraries. Mutations can alter the response of cells to a compound, revealing chemical-genetic interactions that can elucidate a compound’s mode of action. We developed…
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Keywords:
annotation chemical;
functional annotation;
chemical genetic;
biological processes ... See more keywords
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Published in 2024 at "Scientific Reports"
DOI: 10.1038/s41598-024-55463-1
Abstract: Direct exposure to the fungal species Alternaria alternata is a major risk factor for the development of asthma, allergic rhinitis, and inflammation. As of November 23rd 2020, the NCBI protein database showed 11,227 proteins from…
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Keywords:
functional annotation;
potential allergens;
silico approaches;
hypothetical proteins ... See more keywords
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Published in 2025 at "Communications Biology"
DOI: 10.1038/s42003-025-08651-2
Abstract: Protein functional annotation is crucial in biology, but many protein-coding genes remain uncharacterized, especially in non-model organisms. FANTASIA (Functional ANnoTAtion based on embedding space SImilArity) integrates protein language models for large-scale functional annotation. Applied to…
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Keywords:
functional annotation;
biology;
language;
fantasia ... See more keywords
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Published in 2025 at "Briefings in Bioinformatics"
DOI: 10.1093/bib/bbaf285
Abstract: Abstract Phages, viruses that infect bacteria, offer a promising strategy against antibiotic-resistant pathogens. Phage viral proteins (PVPs) are essential for phage–host interactions, yet their identification and functional annotation remain challenging due to high sequence diversity,…
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Keywords:
deep learning;
functional annotation;
phage;
identification functional ... See more keywords