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Browsing Tag

Bioinformatics

17 posts
GGenetics
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
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The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

  • 30 May 2025
Genomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael’s Hospital, Unity Health Toronto, Toronto, ON,…
GGenetics
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene
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Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene

  • 24 May 2025
Artificial Intelligence in genetic medicine offers great potential for improving diagnosis and treatment. However, sustainable AI implementation in…
GGenetics
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children
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View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children

  • 23 May 2025
In the present study, which aimed to collect the views of those involved regarding urGS and its implementation,…
GGenetics
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

  • 30 April 2025
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
HHealthcare
Making cell therapy accessible: challenges and opportunities
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Making cell therapy accessible: challenges and opportunities

  • 20 April 2025
Crystal Mackall: There are numerous bottlenecks. First, manufacturing of autologous products requires complex logistics wherein the product moves…
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
Quantitative characterization of cell niches in spatially resolved omics data
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Quantitative characterization of cell niches in spatially resolved omics data

  • 11 April 2025
This study relies on the analysis of previously published data, adhering to ethical guidelines for human and mouse…
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