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Browsing Tag

Gene Function

28 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 23, 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
Characterization of induced cohesin loop extrusion trajectories in living cells
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Characterization of induced cohesin loop extrusion trajectories in living cells

  • October 18, 2025
Experiments performed in this study did not require ethics board approval. Cell culture HAP1 cells were cultured in…
GGenetics
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
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Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency

  • October 17, 2025
Liver samples All liver samples were collected with written informed consent from Addenbrooke’s Hospital, Cambridge, UK, according to…
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 17, 2025
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
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 10, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
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
Advances in haplotype phasing and genotype imputation
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Advances in haplotype phasing and genotype imputation

  • September 24, 2025
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
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