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Browsing Tag

Biomedicine

76 posts
GGenetics
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  • October 22, 2025
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
GGenetics
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
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Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

  • October 21, 2025
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
GGenetics
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
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Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes

  • October 19, 2025
Overview of the genotyping method We represent variation as haplotype segments that are short enough to minimize disruption…
GGenetics
Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer
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Association of genetic variants in m1A modification core genes and neuroblastoma risk | BMC Cancer

  • October 18, 2025
Park JR, Kreissman SG, London WB, Naranjo A, Cohn SL, Hogarty MD, et al. Effect of tandem autologous…
HHealth care
When helpfulness backfires: LLMs and the risk of false medical information due to sycophantic behavior
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When helpfulness backfires: LLMs and the risk of false medical information due to sycophantic behavior

  • October 18, 2025
To evaluate language models across varying levels of drug familiarity, we used the RABBITS30 dataset, which includes 550…
GGenetics
Redefining cellular reprogramming with advanced genomic technologies
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Redefining cellular reprogramming with advanced genomic technologies

  • October 18, 2025
Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…
GGenetics
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
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Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers

  • October 18, 2025
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
GGenetics
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
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The LMSz method – an automatable scalable approach to constructing gene-specific growth charts in rare disorders

  • October 12, 2025
We have developed a method for producing gene-specific z-score centile charts and growth charts based on small datasets…
GGenetics
Genetic and molecular landscape of comorbidities in people living with HIV
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Genetic and molecular landscape of comorbidities in people living with HIV

  • October 12, 2025
Participants from the 2000HIV study The 2000HIV study is a prospective multicentric observational longitudinal cohort of virally suppressed…
GGenetics
Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation
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Systema: a framework for evaluating genetic perturbation response prediction beyond systematic variation

  • October 11, 2025
Nonparametric baselines We design two nonparametric baselines that we refer to as perturbed mean and matching mean. Perturbed…
GGenetics
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health
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Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health

  • October 11, 2025
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
GGenetics
Nucleotide dependency analysis of genomic language models detects functional elements
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Nucleotide dependency analysis of genomic language models detects functional elements

  • October 11, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
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