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Browsing Tag

Human Genetics

74 posts
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
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…
GGenetics
Breeder turnover creates allelic variation in groups of gray wolves
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Breeder turnover creates allelic variation in groups of gray wolves

  • September 23, 2025
Adams JR, Waits LP (2007) An efficient method for screening faecal DNA genotypes and detecting new individuals and…
HHealth
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…
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
A genomic view of Earth’s biomes
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A genomic view of Earth’s biomes

  • September 22, 2025
Giovannoni, S., Britschgi, T., Moyer, C. & Field, K. Genetic diversity in Sargasso sea bacterioplankton. Nature 345, 60–63…
GGenetics
Is enhancer-driven gene regulation all wrapped up?
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Is enhancer-driven gene regulation all wrapped up?

  • September 21, 2025
Symmons, O. et al. The Shh topological domain facilitates the action of remote enhancers by reducing the effects…
GGenetics
Regulatory genome annotation | Nature Reviews Genetics
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Regulatory genome annotation | Nature Reviews Genetics

  • September 21, 2025
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
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