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  • Introduction
  • National Genomics Infrastructure (NGI)
  • Sequencing on all scales
  • SMRT sequencing at NGI/Uppsala
  • Applications on PacBio
  • From single genes to complete genomes
  • Clinical Sequencing: Chronic Myeloid Leukemia
  • Our clinical diagnostics pipeline for BCR-ABL1
  • PacBio sequencing of BCR-ABL1 transcripts
  • BCR-ABL1 dilution series results
  • BCR-ABL1 - Compound mutations
  • Analysis method for BCR-ABL1 mutations
  • Web system for result sharing
  • Clinical Diagnosis of BCR-ABL1 mutations
  • Drug resistance in Hepatitis C
  • Mutation screening of TP53
  • Target enrichment using hybridization
  • Capture of a ~2 kb library
  • Some features of hybridization based capture
  • Targeted sequencing: FADS region
  • Identification of functional variant in FADS region
  • Haplotype phasing of functional variant
  • RCA sequencing of HPV genomes
  • Human Whole Genome Sequencing
  • The Swedish Genetic Variant Project
  • Twin Registry samples used as control cohort
  • Principal components of European samples from 1,000 genomes project and 10,000 Swedish samples
  • European samples from 1,000 genomes project and 1,000 selected Swedish samples
  • WGS of Swedish control cohort
  • First Swedish PacBio WGS
  • Why clinical WGS using long reads?
  • Who does the sequencing (NGI/Uppsala)?
  • Q&A
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  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University
  • Speaker: Adam Ameur, Bioinformatics Scientist / Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University