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Browsing Tag

Gene Function

50 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
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
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
Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq
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Dissecting the impact of transcription factor dose on cell reprogramming heterogeneity using scTF-seq

  • October 5, 2025
Constructing the scTF-seq library and single-cell atlas To establish scTF-seq, we built a dox-inducible lentiviral open reading frame…
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 3, 2025
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
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
A clinical milestone for CRISPR in sickle-cell disease
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A clinical milestone for CRISPR in sickle-cell disease

  • September 28, 2025
The haemoglobinopathies transfusion-dependent β-thalassemia (TDT) and sickle-cell disease (SCD) are two globally prevalent and severe monogenic blood disorders.…
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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