Showing 1 - 14 results of 14 for search '"100,000 Genomes Project"', query time: 3.18s Refine Results
  1. 1
    Sarcoma and the 100,000 Genomes Project: our experience and changes to practice
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    Article
  2. 2
    Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
    by Gabrielle Wheway, Hannah M. Mitchison
    Published 2019-03-01
    “... technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched...”
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    Article
  3. 3
    Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
    Subjects: “...100,000 Genome Project...”
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  4. 4
    Application of ensemble clustering and survival tree analysis for identifying prognostic clinicogenomic features in patients with colorectal cancer from the 100,000 Genomes Project
    “... using the 100,000 Genomes Project. Results Among the 2211 patients with colorectal cancer (mean age...”
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    Article
  5. 5
    Theory and conceptualisation of public trust in the health care system : three English case studies : care.data, biobanks and 100,000 Genomes Project
    by Gille, F.
    Published 2017
    “...; and an analysis of public focus groups about perceptions of the 100.000 Genomes Project in particular. Further...”
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  6. 6
    Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: Recommendations for reporting results [version 1; peer review: 2 approved]
    “... findings as part of the 100,000 Genomes Project which may have broader application in this emerging field...”
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    Article
  7. 7
    Differential methylation as a diagnostic biomarker of rare renal diseases: a systematic review
    “... the inclusion criteria from ‘The 100,000 Genomes Project’ and The National Registry of Rare Kidney Diseases...”
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    Article
  8. 8
    Ocular Phenotype Associated with <i>DYRK1A</i> Variants
    “...>DYRK1A</i> pathogenic variant. A further nineteen patients from the UK Genomics England 100,000 Genomes...”
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    Article
  9. 9
    Genomic Education at Scale: The Benefits of Massive Open Online Courses for the Healthcare Workforce
    “...To support the delivery of the UK’s 100,000 Genomes Project, Health Education England’s Genomics...”
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    Article
  10. 10
    <i>EPHA2</i> Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
    “... and congenital cataracts. Whole genome sequencing through the 100,000 Genomes Project and cataract-related...”
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    Article
  11. 11
    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
    “... or bronchiectasis were eligible for whole genome sequencing (WGS) in the Genomics England Ltd 100,000 Genomes...”
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    Article
  12. 12
    Neuronal intranuclear inclusion disease is genetically heterogeneous
    “... participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic...”
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    Article
  13. 13
    Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor
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  14. 14
    Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case
    “... whole genome sequencing via the 100,000 genome project. A maternally inherited pathogenic heterozygous...”
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    Article
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