Implementing a successful data-management framework: the UK10K managed access model
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The European Bioinformatics Institute in 2016: Data growth and integrationNext-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsDesign and Implementation of the International Genetics and Translational Research in Transplantation NetworkIntensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats.The European Genome-phenome Archive of human data consented for biomedical research.Abundant contribution of short tandem repeats to gene expression variation in humans.A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsDivStat: a user-friendly tool for single nucleotide polymorphism analysis of genomic diversity.Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic NetworksClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.Incorporating Non-Coding Annotations into Rare Variant Analysis.Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersA uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals.An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.Rare variants and autoimmune disease.Human genomics projects and precision medicine.PhredEM: a phred-score-informed genotype-calling approach for next-generation sequencing studiesGene-based segregation method for identifying rare variants in family-based sequencing studies.Balancing the local and the universal in maintaining ethical access to a genomics biobank.Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder.The governance structure for data access in the DIRECT consortium: an innovative medicines initiative (IMI) project
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Implementing a successful data-management framework: the UK10K managed access model
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2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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Implementing a successful data-management framework: the UK10K managed access model
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P2093
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Implementing a successful data-management framework: the UK10K managed access model
@en
P2093
Carol Smee
Dawn Muddyman
Heather Griffin
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P356
10.1186/GM504
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P50
P577
2013-01-01T00:00:00Z
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1005954304