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Sequencing-based analysis of microbiomes
Microbiomes occupy a range of niches and, in addition to having diverse compositions, they have varied functional roles that have an impact on...
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INSaFLU-TELEVIR: an open web-based bioinformatics suite for viral metagenomic detection and routine genomic surveillance
BackgroundImplementation of clinical metagenomics and pathogen genomic surveillance can be particularly challenging due to the lack of bioinformatics...
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A fat body transcriptome analysis of the immune responses of Rhodnius prolixus to artificial infections with bacteria
BackgroundRhodnius prolixus is an important vector of Trypanosoma cruzi , the causal agent of Chagas disease in humans. Despite the medical...
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The landscape of coding RNA editing events in pediatric cancer
BackgroundRNA editing leads to post-transcriptional variation in protein sequences and has important biological implications. We sought to elucidate...
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Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations
Based on classical karyoty**, structural genome variations (SVs) have generally been considered to be either “simple” (with one or two breakpoints)...
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Computational Modeling Approaches in Search of Anti-Alzheimer's Disease Agents: Case Studies of Phosphodiesterase Inhibitors
Alzheimer’s disease (AD) is one of the major public health concerns. Phosphodiesterases (PDEs) are a major class of enzymes which hydrolyze two...
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome...
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Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
BackgroundChildhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed...
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 ( CHD5 ) gene encodes a subunit of the nucleosome...
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Revolutionizing drug discovery: an AI-powered transformation of molecular docking
AI-based molecular docking, a computational technique fueled by artificial intelligence (AI) algorithms, is transforming the landscape of drug...
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Next-generation data filtering in the genomics era
Genomic data are ubiquitous across disciplines, from agriculture to biodiversity, ecology, evolution and human health. However, these datasets often...
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Technologies to Study Genetics and Molecular Pathways
Over the last few decades, the study of congenital heart disease (CHD) has benefited from various model systems and the development of molecular...
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Hospital sanitary facilities on wards with high antibiotic exposure play an important role in maintaining a reservoir of resistant pathogens, even over many years
BackgroundHospitals with their high antimicrobial selection pressure represent the presumably most important reservoir of multidrug-resistant human...
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Vascularized organoid-on-a-chip: design, imaging, and analysis
Vascularized organoid-on-a-chip (VOoC) models achieve substance exchange in deep layers of organoids and provide a more physiologically relevant...
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Computational Approaches for the Inhibition of ESKAPE Pathogens
According to the WHO priority pathogens list, the six nosocomial pathogens that exhibit resistance to several antibiotics are named as ESKAPE,...
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Applications of long-read sequencing to Mendelian genetics
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and...
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Bioinformatics Approaches for Analyzing Multigene Families Encoding Immune Receptors
Genome sequences are quickly becoming available from a variety of organisms, providing researchers with an abundance of previously inaccessible...
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Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias
BackgroundAlthough many causative genes have been uncovered in recent years, genetic diagnosis is still missing for approximately 50% of autosomal...
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Telomere-to-telomere Citrullus super-pangenome provides direction for watermelon breeding
To decipher the genetic diversity within the cucurbit genus Citrullus , we generated telomere-to-telomere (T2T) assemblies of 27 distinct genotypes,...
