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Browsing Tag

Human Genetics

81 posts
GGenetics
Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters
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Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters

  • 2 June 2025
Inclusion criteria and ethical considerations Between 7.5 and 15 ml of patient blood in EDTA vacutainers was collected upon…
GGenetics
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis
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Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis

  • 2 June 2025
Amyotrophic lateral sclerosis (ALS) is a condition that in recent years has slowly but surely shifted its position…
GGenetics
Plasma proteome variation and its genetic determinants in children and adolescents
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Plasma proteome variation and its genetic determinants in children and adolescents

  • 2 June 2025
Discovery and replication cohorts Our discovery cohort included 2,147 children and adolescents aged 5–20 years from the HOLBAEK Study,…
GGenetics
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
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MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients

  • 31 May 2025
Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101–8. Article  CAS  PubMed …
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…
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