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Browsing Tag

human genetics

48 posts
HHealth
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases
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A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy | Orphanet Journal of Rare Diseases

  • October 17, 2025
Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes.…
GGenetics
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
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Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency

  • October 17, 2025
Liver samples All liver samples were collected with written informed consent from Addenbrooke’s Hospital, Cambridge, UK, according to…
GGenetics
Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers
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Meta-analysis reveals differences in somatic alterations by genetic ancestry across common cancers

  • October 17, 2025
Genetic ancestry is a quantitative measure of inherited genetic variation and correlates with human migration patterns1. It contributes…
GGenetics
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
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SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology

  • October 16, 2025
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
GGenetics
Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025
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Oxford Nanopore Announces PromethION Plus Flow Cell and Human Genetics Updates at ASHG 2025

  • October 15, 2025
OXFORD, England, October 15, 2025–(BUSINESS WIRE)–At the American Society of Human Genetics (ASHG) 2025 industry session on 16th…
GGenetics
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases
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Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms | Orphanet Journal of Rare Diseases

  • October 15, 2025
O’Donnell AE. Bronchiectasis – a clinical review. N Engl J Med. 2022;387(6):533–45. Article  PubMed  Google Scholar  Flume PA,…
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
Ethics Our research complies with all relevant ethical regulations. All studies included in this research were approved by…
GGenetics
Nucleotide dependency analysis of genomic language models detects functional elements
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Nucleotide dependency analysis of genomic language models detects functional elements

  • October 10, 2025
SpeciesLM training For SpeciesLM metazoa, we obtained metazoan genomes comprising 494 different species from the Ensembl 110 database36.…
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
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 4, 2025
Study design The UKB is a prospective cohort study from the UK that contains more than 500,000 volunteers…
GGenetics
Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology
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Incorporating additive genetic effects and linkage disequilibrium information to discover gene-environment interactions using BV-LDER-GE | Genome Biology

  • October 3, 2025
Model overview We consider the following model to incorporate both additive and interaction effects: $${Y}_{i}={\sum }_{j=1}^{M}{G}_{ji}{\beta }_{j}+{\sum }_{j=1}^{M}{S}_{ji}{\gamma…
GGenetics
Spatial architecture of development and disease
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Spatial architecture of development and disease

  • October 1, 2025
Bressan, D., Battistoni, G. & Hannon, G. J. The dawn of spatial omics. Science 381, eabq4964 (2023). Article …
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