1,013 results match your criteria: "Institute for Bioinformatics[Affiliation]"

Plant cells have two major organelles with their own genomes: chloroplasts and mitochondria. While chloroplast genomes tend to be structurally conserved, the mitochondrial genomes of plants, which are much larger than those of animals, are characterized by complex structural variation. We introduce TIPPo, a user-friendly, reference-free assembly tool that uses PacBio high-fidelity long-read data and that does not rely on genomes from related species or nuclear genome information for the assembly of organellar genomes.

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Recent improvements in methods and instruments used in mass spectrometry have greatly enhanced the detection of protein post-translational modifications (PTMs). On the computational side, the adoption of open modification search strategies now allows for the identification of a wide variety of PTMs, potentially revealing hundreds to thousands of distinct modifications in biological samples. While the observable part of the proteome is continuously growing, the visualization and interpretation of this vast amount of data in a comprehensive fashion is not yet possible.

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Transformations to Simplify Phylogenetic Networks.

Bull Math Biol

January 2025

Biomathematics Research Centre, University of Canterbury, Christchurch, New Zealand.

The evolutionary relationships between species are typically represented in the biological literature by rooted phylogenetic trees. However, a tree fails to capture ancestral reticulate processes, such as the formation of hybrid species or lateral gene transfer events between lineages, and so the history of life is more accurately described by a rooted phylogenetic network. Nevertheless, phylogenetic networks may be complex and difficult to interpret, so biologists sometimes prefer a tree that summarises the central tree-like trend of evolution.

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STOUT V2.0: SMILES to IUPAC name conversion using transformer models.

J Cheminform

December 2024

Institute for Inorganic and Analytical Chemistry, Friedrich Schiller University Jena, Lessingstr. 8, 07743, Jena, Germany.

Naming chemical compounds systematically is a complex task governed by a set of rules established by the International Union of Pure and Applied Chemistry (IUPAC). These rules are universal and widely accepted by chemists worldwide, but their complexity makes it challenging for individuals to consistently apply them accurately. A translation method can be employed to address this challenge.

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Transposon-triggered epigenetic chromatin dynamics modulate EFR-related pathogen response.

Nat Struct Mol Biol

December 2024

Instituto de Agrobiotecnología del Litoral (CONICET-UNL), Cátedra de Biología Celular y Molecular, Facultad de Bioquímica y Ciencias Biológicas, Universidad Nacional del Litoral, Santa Fe, Argentina.

Infectious diseases drive wild plant evolution and impact crop yield. Plants, like animals, sense biotic threats through pattern recognition receptors (PRRs). Overly robust immune responses can harm plants; thus, understanding the tuning of defense response mechanisms is crucial for developing pathogen-resistant crops.

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Courses of SARS-CoV-2 infections are highly variable, ranging from asymptomatic to lethal COVID-19. Though research has shown that host genetic factors contribute to this variability, cohort-based joint analyses of variants from the entire allelic spectrum in individuals with confirmed SARS-CoV-2 infections are still lacking. Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases.

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TSS-Captur: a user-friendly pipeline for characterizing unclassified RNA transcripts.

NAR Genom Bioinform

December 2024

Institute for Bioinformatics and Medical Informatics, Department of Computer Science,  University of Tübingen, Sand 14, Tübingen 72076, Germany.

RNA-seq and its 5'-enrichment methods for prokaryotes have enabled the precise identification of transcription start sites (TSSs), improving gene expression analysis. Computational methods are applied to these data to identify TSSs and classify them based on proximal annotated genes. While some TSSs cannot be classified at all (orphan TSSs), other TSSs are found on the reverse strand of known genes (antisense TSSs) but are not associated with the direct transcription of any known gene.

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Background: The evaluation of canine vaginal bacteria during proestrus and estrus and the chosen parameters will help to prevent the misuse of antibiotics in veterinary medicine.

Methods: This study carried out a retrospective analysis to obtain microbiological examination results for vaginal swabs from 696 healthy dogs, all of whom were patients from one clinic. Age, body weight, fur length (long or short hair), the time of sampling of vaginal swabs, the duration of proestrus/estrus, progesterone (P4) concentration (the first and last samples), and bacteriological findings were evaluated.

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The interplay of stochastic and ecological processes that govern the establishment and persistence of host-associated microbial communities is not well understood. Here we illustrate the conceptual and practical advantages of fitting stochastic population dynamics models to multi-species bacterial time series data. We show how the stability properties, fluctuation regimes and persistence probabilities of human vaginal microbial communities can be better understood by explicitly accommodating three sources of variability in ecological stochastic models of multi-species abundances: 1) stochastic biotic and abiotic forces, 2) ecological feedback and 3) sampling error.

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Article Synopsis
  • Microbial evolution can occur in positive inter-species interactions, leading to different evolutionary outcomes.
  • In a study, four microbe species were evolved in both monocultures and communities to see how they interacted under the presence of a toxic pollutant.
  • After 44 weeks, some species evolved to rely on each other less and showed signs of resource specialization, contradicting the Black Queen Hypothesis which suggested they would develop stronger mutualistic relationships.
  • Ultimately, the co-evolved community was less effective at degrading the pollutant compared to their ancestors, indicating that collaboration among species can lead to weaker interactions and hinder adaptation.
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Neonatal apneas and hypopneas present a serious risk for healthy infant development. Treating these adverse events requires frequent manual stimulation by skilled personnel, which can lead to alarm fatigue. This study aims to develop and validate an interpretable model that can predict apneas and hypopneas.

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Article Synopsis
  • - The EyeMatics project is part of Germany's Medical Informatics Initiative, focusing on improving treatment for eye diseases through better understanding of intravitreal injection effects.
  • - It aims to enhance patient data integration and visualization from various hospital systems, while promoting strong governance and patient involvement.
  • - The project employs AI methods to analyze data and biomarkers, emphasizing user-centered strategies for effective implementation and evaluation in a multi-site observational study.
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A privacy-preserving approach for cloud-based protein fold recognition.

Patterns (N Y)

September 2024

Medical Data Privacy and Privacy Preserving Machine Learning (MDPPML), Department of Computer Science, University of Tübingen, 72076 Tübingen, Germany.

The complexity and cost of training machine learning models have made cloud-based machine learning as a service (MLaaS) attractive for businesses and researchers. MLaaS eliminates the need for in-house expertise by providing pre-built models and infrastructure. However, it raises data privacy and model security concerns, especially in medical fields like protein fold recognition.

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Background: Venovenous extracorporeal membrane oxygenation (VV-ECMO) is associated with acute brain injury (ABI), including central nervous system (CNS) ischemia (defined as ischemic stroke or hypoxic-ischemic brain injury [HIBI]) and intracranial hemorrhage (ICH). Data on prediction models for neurologic outcomes in VV-ECMO are limited.

Methods: We analyzed adult (age ≥18 years) VV-ECMO patients in the Extracorporeal Life Support Organization (ELSO) Registry (2009-2021) from 676 centers.

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To identify the pathways that are coordinately regulated in pancreatic β cells, muscle, liver, and fat to control fasting glycemia we fed C57Bl/6, DBA/2, and Balb/c mice a regular chow or a high fat diet for 5, 13, and 33 days. Physiological, transcriptomic and lipidomic data were used in a data fusion approach to identify organ-specific pathways linked to fasting glycemia across all conditions investigated. In pancreatic islets, constant insulinemia despite higher glycemic levels was associated with reduced expression of hormone and neurotransmitter receptors, OXPHOS, cadherins, integrins, and gap junction mRNAs.

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Regulatory T cells (Tregs) establish dominant immune tolerance but obstruct tumor immune surveillance, warranting context-specific mechanistic insights into the functions of tumor-infiltrating Tregs (TIL-Tregs). We show that enhanced posttranslational O-linked N-acetylglucosamine modification (O-GlcNAcylation) of cellular factors is a molecular feature that promotes a tumor-specific gene expression signature and distinguishes TIL-Tregs from their systemic counterparts. We found that altered glucose utilization through the glucose transporter Glut3 is a major facilitator of this process.

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

NPJ Genom Med

October 2024

Centro Nacional de Análisis Genómico (CNAG), C/Baldiri Reixac 4, 08028, Barcelona, Spain.

Article Synopsis
  • * By employing three CNV calling algorithms to enhance detection, we successfully provided molecular diagnoses to 51 families, with ClinCNV showing the highest effectiveness among the algorithms used.
  • * Additionally, we found partially explanatory pathogenic CNVs in 34 other individuals, highlighting the importance and benefits of revisiting past exome sequencing data in search of CNVs.
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Top-down proteomics using mass spectrometry facilitates the identification of intact proteoforms, that is, all molecular forms of proteins. Multiple past advances have lead to the development of numerous sample preparation workflows. Here we systematically investigated the influence of different sample preparation steps on proteoform and protein identifications, including cell lysis, reduction and alkylation, proteoform enrichment, purification and fractionation.

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Building pangenome graphs.

Nat Methods

November 2024

Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.

Pangenome graphs can represent all variation between multiple reference genomes, but current approaches to build them exclude complex sequences or are based upon a single reference. In response, we developed the PanGenome Graph Builder, a pipeline for constructing pangenome graphs without bias or exclusion. The PanGenome Graph Builder uses all-to-all alignments to build a variation graph in which we can identify variation, measure conservation, detect recombination events and infer phylogenetic relationships.

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Inferring ancestry with the hierarchical soft clustering approach tangleGen.

Genome Res

December 2024

Cluster of Excellence "Controlling Microbes to Fight Infections", Mathematical and Computational Population Genetics, University of Tübingen, 72074 Tübingen, Germany;

Understanding the genetic ancestry of populations is central to numerous scientific and societal fields. It contributes to a better understanding of human evolutionary history, advances personalized medicine, aids in forensic identification, and allows individuals to connect to their genealogical roots. Existing methods, such as ADMIXTURE, have significantly improved our ability to infer ancestries.

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Article Synopsis
  • - Accurate quantification of individual proteoforms is important for understanding changes in the proteome during different biological conditions, typically analyzed using top-down proteomics (TDP) and label-free quantification (LFQ) methods.
  • - The introduction of FLASHQuant addresses the challenges in TDP by automatically resolving and quantifying coeluting proteoforms, enhancing the accuracy of the measurements despite complex signal structures.
  • - Benchmark tests show that FLASHQuant provides reliable and precise quantification results in just a few minutes per LC-MS run, and the software is available for free online, making it accessible for widespread use.
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Article Synopsis
  • Pangenome graphs are useful for capturing genomic variability but current methods often come with biases and resource inefficiencies.
  • The new nf-core/pangenome provides a reference-unbiased approach that is efficient, scalable, and uses biocontainers for easy deployment on high-performance computing (HPC) systems.
  • This tool has shown to be significantly faster than existing methods, managing to process extensive genomic data with a lower environmental impact, and is openly available on GitHub and Zenodo for public use.
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Article Synopsis
  • Immune checkpoint inhibitors (ICIs) have greatly improved survival rates for melanoma patients, but many suffer from serious side effects and there is a need for better early response indicators.
  • A study involving 104 patients used circulating tumor DNA (ctDNA) as a biomarker to assess treatment response and recurrence, employing advanced sequencing techniques.
  • Results showed that changes in ctDNA levels were linked to patient outcomes, indicating that tumor-informed liquid biopsies could effectively monitor treatment responses and detect early relapses in melanoma.
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