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Browsing Tag

human genetics

44 posts
SScience
ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology
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ParaRef: a decontaminated reference database for parasite detection in ancient and modern metagenomic datasets | Genome Biology

  • October 23, 2025
Blake DP, Betson M. One health: parasites and beyond. Parasitology. 2017;144:1–6. PubMed  Google Scholar  Coulter JBS. Global importance…
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…
SScience
iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology
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iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology

  • October 22, 2025
Plant lines and growth conditions The plant lines used in this study were derived from A. thaliana wild-type…
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
Genetics Sequencing - Precision Medicine - Abstract Illustration as EPS 10 File
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AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation

  • October 20, 2025
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…
GGenetics
Twenty years of genome-wide association studies: Health translation challenges and AI opportunities
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Twenty years of genome-wide association studies: Health translation challenges and AI opportunities

  • October 20, 2025
Southam L, Zeggini E. Twenty years of genome-wide association studies. Nature. 2025;641:47–9. Article  PubMed  CAS  Google Scholar  Klein…
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…
HHealth
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases
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A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases

  • October 17, 2025
Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes.…
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
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
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SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology

  • October 16, 2025
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
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