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Browsing Tag

Human Genetics

46 posts
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
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…
GGenetics
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
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Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025

  • October 15, 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
GGenetics
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
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KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease

  • October 13, 2025
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
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
To identify genes associated with either adult BMI or T2D risk, we performed association testing using WGS data…
GGenetics
A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
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A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology

  • October 10, 2025
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
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…
GGenetics
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders

  • September 22, 2025
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
GGenetics
Rapid epigenomic classification of acute leukemia
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Rapid epigenomic classification of acute leukemia

  • September 22, 2025
A comprehensive DNA methylation reference of acute leukemia We curated a comprehensive DNA methylation-based reference cohort from published…
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