AUG 21, 2013 7:00 AM PDT

Improving the Accuracy of Genome Sequencing and Interpretation

Speaker
  • Professor of Genetics, Director of the Center for Computational Genetics, Harvard Medical School
    Biography
      George M. Church, PhD '84, is professor of genetics at Harvard Medical School, a founding member of the Wyss Institute, and director of PersonalGenomes.org, the world's only open-access information on human genomic, environmental, and trait data. Church is known for pioneering the fields of personal genomics and synthetic biology. He developed the first methods for the first genome sequence & dramatic cost reductions since then (down from $3 billion to $600), contributing to nearly all "next generation sequencing" methods and companies. His team invented CRISPR for human stem cell genome editing and other synthetic biology technologies and applications - including new ways to create organs for transplantation, gene therapies for aging reversal, and gene drives to eliminate Lyme Disease and Malaria. Church is director of IARPA & NIH BRAIN Projects and National Institutes of Health Center for Excellence in Genomic Science. He has coauthored 450 papers, 105 patents, and one book, "Regenesis". His honors include Franklin Bower Laureate for Achievement in Science, the Time 100, and election to the National Academies of Sciences and Engineering.

    Abstract

    Our ability to view and alter biology is progressing at an exponential pace -- faster even than electronics. Next generation sequencing can be used to assess inherited, environmental and epi- genomes. CLIA typically ensures reproducibility, but not necessarily highest accuracy. Genome sequence accuracy requires haplotype phase (measured, not merely inferred). Interpretation accuracy requires deep knowledge of the interactions of genomes, environments and traits. We can now move from mere correlation to causality by systematically synthesizing millions of genomic (and epi-genomic) variants via CRISPR technologies and human pluripotent stem cells. We test these technologies and interpretation software (http://GET-evidence.org ) using data and cells from the world's only fully shareable genomics resource (http://Personalgenomes.org) -- enabling clearer preview of precision medicine. The learning objectives of this session include measuring accuracy of the underlying data, the computational integration of diverse data types -- and informed consent in an era of leaks, rich data and re-identification.


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