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Browsing Tag

Human Genetics

97 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
Searching for the origin of human brain tumours
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Searching for the origin of human brain tumours

  • 28 May 2025
The anatomical location and cell type from which tumours originate has biological, diagnostic and therapeutic implications, but understanding…
GGenetics
Genome synteny reveals hidden enhancer conservation
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Genome synteny reveals hidden enhancer conservation

  • 27 May 2025
Long, H. K., Prescott, S. L. & Wysocka, J. Cell 167, 1170–1187 (2016). Article  CAS  PubMed  PubMed Central …
GGenetics
Genomic landscape of multiple myeloma and its precursor conditions
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Genomic landscape of multiple myeloma and its precursor conditions

  • 25 May 2025
The MM-like genomic score captures disease progression To characterize the somatic mutation landscape and drivers in precursor conditions…
GGenetics
Genome-wide association study of long COVID
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Genome-wide association study of long COVID

  • 25 May 2025
Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland Vilma…
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
A crossroads in the timeline of human evolution
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A crossroads in the timeline of human evolution

  • 23 May 2025
Ancient DNA (aDNA) sequencing is like unlocking a genetic time capsule, almost bringing the past back to life…
GGenetics
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
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The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study

  • 21 May 2025
JOHBOC Registration Committee: Masami Arai (Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan), Seigo…
GGenetics
Investigating spatial gene circuits and gene–phenotype mechanisms with Perturb-FISH
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Investigating spatial gene circuits and gene–phenotype mechanisms with Perturb-FISH

  • 20 May 2025
Gene regulatory networks control functional phenotypes in cells and tissues. In complex tissues, these networks span cells and…
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