Slide 1

Establishing a Clinical Genomics Program at an Academic Medical Center Jason Merker, M.D., Ph.D. Co-director, Stanford Clinical Genomics Service Regional APC/PDAS Meeting, Kauai 10/23/2014

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Introduction to Clinical Genomics (in 5 Slides)

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Wellcome Collection Medicine Now 3.4 billion units of DNA code: 127 volumes 1,000 pages per volume

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Size of targeted regions in assays Genome 127 volumesExome 2.5 volumes500 gene panel 40 pages50 gene panel 4 pagesSingle gene

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Tumor/Normal or Trio Genome Sequencing Data

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Limit of detection - % allele burden Assay type Average limit of detection (% allele burden) Genome sequencing~20 30% Exome sequencing~20 30% NGS-based gene panels5 10% Sanger sequencing20% Single mutation assay