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  • >60% of Intellectual disability is by de novo mutations
  • Acknowledgements
  • A de novo paradigm for mental retardation
  • Background information
  • Compound heterozygous variants
  • Conclusions
  • Conflict of interest
  • De novo candidate SVs
  • DNA
  • EU: H2020 grant – start date Jan 2018
  • Filtering for de novo SV candidates
  • First data
  • First data: Number of SVs/genome
  • Intellectual Disability: What is the problem?
  • Introduction
  • New GeneticTechnologies elucidate Intellectual Disability
  • Our first data: Gb output
  • Our first data: Number of SVs/genome
  • Small SVs (50bp-1000bp) – 40x trio
  • Validations for de novo candidates are ongoing
  • Variants missed by short read sequencing
  • We can detect de novo SNVs
  • What about the other 38%?
  • Which regions of the genome are (not) covered?
  • Why we acquired a PacBio machine
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  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center
  • Speaker: Han Brunner, M.D., Head of Clinical Genetics / Radboud University Medical Center