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Browsing Tag

Gene Function

36 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
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
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.…
GGenetics
Forensic genetics in the omics era
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Forensic genetics in the omics era

  • October 10, 2025
Jeffreys, A. J., Wilson, V. & Thein, S. L. Individual-specific ‘fingerprints’ of human DNA. Nature 316, 76–79 (1985).…
GGenetics
A genetic map of human metabolism across the allele frequency spectrum
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A genetic map of human metabolism across the allele frequency spectrum

  • October 4, 2025
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
GGenetics
Spatial architecture of development and disease
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Spatial architecture of development and disease

  • October 1, 2025
Bressan, D., Battistoni, G. & Hannon, G. J. The dawn of spatial omics. Science 381, eabq4964 (2023). Article …
GGenetics
Limited overlap between genetic effects on disease susceptibility and disease survival
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Limited overlap between genetic effects on disease susceptibility and disease survival

  • September 30, 2025
Ethics statement This study was conducted in compliance with the relevant ethical guidelines and approved by the appropriate…
GGenetics
Bryophytes hold a larger gene family space than vascular plants
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Bryophytes hold a larger gene family space than vascular plants

  • September 23, 2025
Kenrick, P. & Crane, P. R. The origin and early evolution of plants on land. Nature 389, 33–39…
GGenetics
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

  • September 18, 2025
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
GGenetics
Is enhancer-driven gene regulation all wrapped up?
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Is enhancer-driven gene regulation all wrapped up?

  • September 17, 2025
Symmons, O. et al. The Shh topological domain facilitates the action of remote enhancers by reducing the effects…
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