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Browsing Tag

Gene Function

35 posts
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
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
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
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

  • September 18, 2025
Abul-Husn, N. S. & Kenny, E. E. Personalized medicine and the power of electronic health records. Cell 177,…
GGenetics
Regulatory genome annotation | Nature Reviews Genetics
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Regulatory genome annotation | Nature Reviews Genetics

  • September 16, 2025
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
GGenetics
Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy
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Diversity challenges and reconciles genetics in facioscapulohumeral muscular dystrophy

  • September 16, 2025
Wang LH, Tawil R. Facioscapulohumeral dystrophy. Curr Neurol Neurosci Rep. 2016;16:66. Article  PubMed  Google Scholar  Mul K, Lassche…
GGenetics
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
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A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family

  • September 2, 2025
Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
GGenetics
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
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Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts

  • September 1, 2025
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
GGenetics
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
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MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review

  • September 1, 2025
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
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