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Browsing Tag

Human Genetics

97 posts
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…
GGenetics
Mapping genetic diversity with the GenomeIndia project - Nature
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Mapping genetic diversity with the GenomeIndia project – Nature

  • 16 April 2025
Mapping genetic diversity with the GenomeIndia project  Nature A unique genome database of 10,000 ‘healthy’ Indians is ready for…
GGenetics
Longitudinal single-cell multiomic atlas of high-risk neuroblastoma reveals chemotherapy-induced tumor microenvironment rewiring
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Longitudinal single-cell multiomic atlas of high-risk neuroblastoma reveals chemotherapy-induced tumor microenvironment rewiring

  • 15 April 2025
Single-cell longitudinal profiling reveals microenvironmental shifts We profiled neuroblastoma samples from 22 patients with high-risk neuroblastoma obtained through…
GGenetics
Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease
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Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease

  • 14 April 2025
Crick, F. Molecular biology in the year 2000. Nature 228, 613–615 (1970). Article  CAS  PubMed  Google Scholar  Crick,…
GGenetics
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
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Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum

  • 14 April 2025
Genome-wide meta-analyses identify new loci for infertility We identified female infertility of all causes (F-ALL), anatomical causes (F-ANAT),…
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