Establishing a Clinical Genomics Program at an Academic Medical Center Jason Merker, M.D., Ph.D....
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Establishing a Clinical Genomics Program at an Academic Medical Center Jason Merker, M.D., Ph.D. Co-director, Stanford Clinical Genomics Service Regional
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
Slide 2
Introduction to Clinical Genomics (in 5 Slides)
Slide 3
Wellcome Collection Medicine Now 3.4 billion units of DNA code:
127 volumes 1,000 pages per volume
Slide 4
Size of targeted regions in assays Genome 127 volumesExome 2.5
volumes500 gene panel 40 pages50 gene panel 4 pagesSingle gene
Slide 5
Tumor/Normal or Trio Genome Sequencing Data
Slide 6
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