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Browsing Tag

Human Genetics

81 posts
GGenetics
Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design
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Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design

  • 21 June 2025
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
GGenetics
RNA polymerase II transcription compartments — from factories to condensates
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RNA polymerase II transcription compartments — from factories to condensates

  • 19 June 2025
Baum, M., Erdel, F., Wachsmuth, M. & Rippe, K. Retrieving the intracellular topology from multi-scale protein mobility mapping…
GGenetics
Review of 40 genes causing congenital myasthenic syndromes
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Review of 40 genes causing congenital myasthenic syndromes

  • 18 June 2025
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes…
GGenetics
Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas
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Integration of MRI radiomics and germline genetics to predict the IDH mutation status of gliomas

  • 16 June 2025
An overview of the study design and analysis is provided in Fig. 1. Demographic and clinical characteristics of…
GGenetics
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

  • 9 June 2025
Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on…
GGenetics
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
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RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network

  • 8 June 2025
Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao Y-HE, et al. A multiplexed assay for…
GGenetics
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
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Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement

  • 6 June 2025
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
GGenetics
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
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A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot

  • 6 June 2025
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
GGenetics
Genomics of host–microbiome interactions in humans
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Genomics of host–microbiome interactions in humans

  • 4 June 2025
Valdes, A. M., Walter, J., Segal, E. & Spector, T. D. Role of the gut microbiota in nutrition…
GGenetics
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
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An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression

  • 3 June 2025
Simulations In order to test this novel application of the method we first simulated GWAS of disease incidence…
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