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2882
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
Published 2025-01-01“…Abstract The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal intensive care unit. …”
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2883
Sanger validation of WGS variants
Published 2025-01-01“…Despite that, no works to date report the concordance between variants from whole genome sequencing and their gold-standard Sanger validation. …”
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2884
A versatile site-directed gene trap strategy to manipulate gene activity and control gene expression in Caenorhabditis elegans.
Published 2025-01-01“…Thus, our cGAL-based gene trap is versatile and represents a powerful genetic tool for gene function analysis in C. elegans, which will ultimately provide new insights into how genes in the genome control the biology of an organism.…”
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2885
VARIABILITY OF RACIAL COMPOSITION OF SUNFLOWER BROOMRAPE (ОROBANCHE CUMANA WALLR.) AND NEW STRATEGIES FOR PROTECTION FROM THE PARASITE
Published 2018-05-01“…Several genes of KAI2d have been established in the parasite genome, which encode the KAI2d receptors. As a result of the discovery of substances involved in the germination of broomrape seeds, new strategies for protecting sunflower from this parasitic plant are being discussed, which are under development. …”
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2886
Adaptive Evolution Coupled with Retrotransposon Exaptation Allowed for the Generation of a Human-Protein-Specific Coding Gene That Promotes Cancer Cell Proliferation and Metastasis...
Published 2015-01-01“…Till date whether human genome includes species-specific cancer-related genes that could potentially contribute to a higher cancer susceptibility remains obscure. …”
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2887
Generation of barcoded plasmid libraries for massively parallel analysis of chromatin position effects
Published 2019-03-01“…To study this effect in a high-throughput mode and at the genome-wide level, the Thousands of Reporters Integrated in Parallel (TRIP) approach based on the usage of barcoded reporter gene constructs was recently developed. …”
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2888
Dynamic changes of peptidome and release of polysaccharide in sea cucumber (Apostichopus japonicus) hydrolysates depending on enzymatic hydrolysis approaches
Published 2022-09-01“…Here, inspired by the clarification of Apostichopus japonicus genome, we investigated the enzymatic hydrolysis of sea cucumber body wall by using the omics strategy. …”
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2889
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2890
DNA methylation biomarker analysis from low-survival-rate cancers based on genetic functional approaches
Published 2025-01-01“…This study integrated genome-wide DNA methylation profiles and comorbidity patterns to identify the common biomarkers with multi-functional analytics across the aforementioned five cancer types. …”
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2891
A sequencing-based method for quantifying gene-deletion mutants of bacteria in the intracellular environment
Published 2025-01-01“…Based on standardized Illumina short-read sequencing of genomic DNA, the method eliminates the need for specific selective markers on each deletion mutant. …”
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2892
DETECTION OF CAMPYLOBACTER SPP. WITH REAL-TIME POLYMERASE CHAIN REACTION
Published 2019-12-01“…The said method was used for testing 76 samples of raw materials of animal origin. Campylobacter spp. genome was detected in 18 samples. Obtained results showed that the optimized variant of real-time polymerase chain reaction based on 16S rRNA gene amplifi cation was a specifi c, sensitive, rapid, reproducible and accurate method for qualitative detection of Campylobacter spp. in samples of raw animal materials.…”
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2893
Rapid detection of FAdV-4 by one-tube RPA-CRISPR/Cas12a assay
Published 2025-02-01“…This approach reduced contamination.ResultsThe RPA-CRISPR/Cas12a detection method can identify as few as 10 copies of the genome per reaction, demonstrating 100% sensitivity comparable to that of fluorescence PCR (qPCR). …”
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2894
AMEND 2.0: module identification and multi-omic data integration with multiplex-heterogeneous graphs
Published 2025-02-01“…AMEND was applied to two real-world multi-omic datasets: renal cell carcinoma data from The cancer genome atlas and an O-GlcNAc Transferase knockout study. …”
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2895
The Causal Relationship between Immune-Mediated Inflammatory Diseases and Aortic Aneurysm: A Bidirectional Two-Sample Mendelian Randomization Study
Published 2024-01-01“…We sourced genetic association data from public genome-wide association study databases for populations of European ancestry. …”
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2896
HAVCR1 Affects the MEK/ERK Pathway in Gastric Adenocarcinomas and Influences Tumor Progression and Patient Outcome
Published 2019-01-01“…We first determined the expression of HAVCR1 in GAC tissues compared with normal gastric tissues based on the Cancer Genome Atlas (TCGA) database using bioinformatics analysis methods. …”
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2897
The effect of coagulation traits on the risk of retinal vein occlusion: a mendelian randomization study
Published 2025-01-01“…This study aims to investigate the potential causal relationship between coagulation traits and the risk of RVO by analyzing publicly available genome-wide association study (GWAS) summary statistics. …”
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2898
An evaluation of the severe acute respiratory infection surveillance system in Ireland
Published 2025-02-01“…Time to receipt of whole genome sequencing (WGS) results was 40 days (IQR 30–61). …”
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2899
Hypermutability bypasses genetic constraints in SCV phenotypic switching in Pseudomonas aeruginosa biofilms
Published 2025-01-01“…Through experimental evolution and whole-genome sequencing, we show that both wild-type and mutator strains undergo parallel evolution by accumulating compensatory mutations in factors regulating intracellular c-di-GMP levels, particularly in the Wsp and Yfi systems. …”
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2900
Genetic Variations in Nucleotide Excision Repair Pathway Genes and Risk of Allergic Rhinitis
Published 2022-01-01“…The nucleotide excision repair (NER) system is an important pathway in maintaining the stability of the genome. Therefore, the genetic variations in NER pathway genes may have potential effects on AR risk. …”
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