Clinical OMICS

MAR-APR 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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40 Clinical OMICs March/April 2018 Chris Anderson Editor in Chief Researchers Who Were There Discuss the Legacy of the Human Genome Project The Human Genome at L ooking back to the publication of the first draft human genome in Nature and the official declaration of the completion of the Human Genome Project (HGP) 15 years ago, it is easy to overlook, based on the power of today's sequencing technology, how monumental a task the project was when it was formally launched in 1990. Today, we take the prodigious power of next-gen sequencing for granted, but the human genome was assembled using trusty Sanger sequencing. "In graduate school lectures I ask the students to imagine that there was no Internet or computers, or cells phones when we started," said Richard Gibbs, Ph.D., founder and director of the Human Genome Sequencing Center (HGSC), established at Bay- lor College of Medicine, and one of the five sequencings sites worldwide funded for the HGP. "Then I show them pictures of some of the old sequencing machines where we could run 16 samples and have them divide 16 into 60 million, or however many [bases] it was we had to do, and they begin to understand." Jane Rogers, Ph.D., who rose to be head of sequencing at the Wellcome Trust Sanger Institute in Cambridge, U.K.—the single largest contributor to the HGP—put it a different way: "Nowadays, you assume you can sequence all four bases at a time. At that time, we were sequenc- ing with primers and we were only essentially doing a reaction for one base at a time." In the mid 1990s, many of the chemistries were also still being perfected. "When the terminators first came out, the chemistry and the enzymes weren't particularly great. So we were doing all the separations on gels that separated 250 bases. We could run 36 lanes of 250 bases, in 12 hours," she added. "It was slow." With roughly 3 billion bases to sequence over the projected 15-year timeline, the sequencing centers of the HGP needed to adopt a production mindset—essentially turning their research facilities and campuses into genome sequencing factories. That's how Elaine Mardis, Ph.D., currently co-executive director, Institute 15 A double helix staircase at the Wellcome Sanger Institute pays homage to its roots.

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