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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Page 42 of 51 March/April 2018 Clinical OMICs 41 for Genomic Medicine at Nationwide Children's Hospital in Ohio, became involved with the work at HGP consortium member Washington University, St. Louis. After working in industry for four years with Bio-Rad Laboratories, leveraging her experience in enzymology and DNA sequencing automation, Mardis was lured back to academia by Bob Waterston at Washington University in 1993. Waterston was just beginning his work to sequence the Caenorhabditis elegans genome and Mardis' background in molecular biology and automation made her a top choice to scale up the university's sequencing operation. "Those were interesting days just because sequencing wasn't a big industry like it is today. Mundane things that needed automation, like the ability to harvest plaques or col- onies off plates, weren't available as things you could buy, we had to build them," Mardis said. "So, my early technol- ogy development group included engineers as well as molec- ular biologists who worked together to develop robotics and automation that were highly customized." Mardis' activities in the U.S. mirrored the work Rogers was performing at the Sanger, whose founding director, the late Sir John Sulston, was collaborating with Waterston on C. elegans (work that earned Sulston a share of the Nobel Prize in 2002). For both institutions sequencing the model organ- ism provided the ultimate springboard to working on the human genome. "We had a sense of how important this work was—how having a completed C. elegans sequence gave a huge boost to researchers who now had a template to research their own specific [C. elegans] phenotype," Mardis said. "We under- stood we were moving to a much more complicated organ- ism, but that these same type of biological inquiries were going to be greatly accelerated through the human genome." Team of Rivals In retrospect, it seems almost inevitable that as the HGP pro- gressed there would be a splintering within the groups of sci- entists involved. For the HGP, that moment came along with the viability of whole-genome shotgun sequencing, which promised to significantly increase the speed of sequencing the genome versus the hierarchical sequencing method used by the publicly funded labs. Mark Adams, Ph.D., director, microbial genomic services at the Jackson Laboratory's genomics facility in Farmington, CT, was a principal investor for a pilot phase of the Human Genome Project in the mid 1990s at The Institute for Genomic Research (TIGR) alongside Craig Venter. Adams worked with Venter on TIGR's work with expressed sequence tags (ESTs) and also on the landmark sequencing of the first bacterial (Haemophilus) genome in 1995—completed using shotgun sequencing. Self-described as impatient, it seems natural that Adams would be drawn to a faster method of sequencing. "Around 1997, Craig and I had an acute appreciation for how difficult it was going to be to sequence the human genome. At the (continued on next page) Then Director of NHGRI Francis Collins announces the launch of the Human Genome Project at a press event in 1990.

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