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Browsing Tag

Human Genetics

81 posts
GGenetics
Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis
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Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis

  • 28 April 2025
Participants and samples The studies described here comply with ethical regulations as approved under local institutional review boards,…
GGenetics
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

  • 27 April 2025
More than 4,000 genes have been established as etiological for a rare disease, of which only 69 are…
GGenetics
Pan-genome analysis reveals the evolution and diversity of Malus
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Pan-genome analysis reveals the evolution and diversity of Malus

  • 27 April 2025
The Malus evolutionary genomic landscape We sequenced accessions from 30 species, de novo assembled high-quality genomes and anchored…
GGenetics
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
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Advances in single-cell DNA sequencing enable insights into human somatic mosaicism

  • 26 April 2025
Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021). Article …
GGenetics
Pan-genomic analysis highlights genes associated with agronomic traits and enhances genomics-assisted breeding in alfalfa
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Pan-genomic analysis highlights genes associated with agronomic traits and enhances genomics-assisted breeding in alfalfa

  • 23 April 2025
Annicchiarico, P., Barrett, B., Brummer, E. C., Julier, B. & Marshall, A. H. Achievements and challenges in improving…
GGenetics
Transcriptome-wide analysis of differential expression in perturbation atlases
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Transcriptome-wide analysis of differential expression in perturbation atlases

  • 21 April 2025
Dixit, A. et al. Perturb-seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens. Cell…
GGenetics
Genetic regulation of gene expression across multiple tissues in chickens
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Genetic regulation of gene expression across multiple tissues in chickens

  • 19 April 2025
Hillier, L. W. & Miller, W. Sequence and comparative analysis of the chicken genome provide unique perspectives on…
GGenetics
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
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Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level

  • 19 April 2025
Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters.…
GGenetics
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome
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Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

  • 18 April 2025
Glass I, Swindlehurst C, Aitken D, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome…
GGenetics
The landscape of N6-methyladenosine in localized primary prostate cancer
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The landscape of N6-methyladenosine in localized primary prostate cancer

  • 17 April 2025
The m6A landscape of localized prostate cancer We quantified the epitranscriptomes of 162 primary localized prostate tumors using…
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