Here’s some of the story, published at ncbiotech.org:
The 2012 Summer Microarray Workshop, co-hosted by the North Carolina Biotechnology Center, was organized by the Cytogenomic Array Group (CAG), part of the Mission Healthcare Foundation, a nonprofit wing of western North Carolina’s Mission Hospital.
The workshop gave CAG the opportunity to introduce their copy-number variant database, known as the CAGdb. Copy-number variants are strands of DNA that contain genetic mutations, which often lead to health problems. The CAGdb allows members to share and access data related to abnormal microarray findings and guide their own analysis based on past tests.
About two years ago, CAG geneticists realized that they had no way of storing their microarray findings, said Hutton Kearney, Ph.D., of the Fullerton Genetics Center at Asheville’s Mission Hospital. Kearney explained that by creating an internal database, the CAG soon realized they had an efficient way of communicating with other labs and sharing information.
The workshop’s keynote address came from Stephen W. Scherer, Ph.D., of the University of Toronto’s Hospital for Sick Children.
Described by conference organizers as their “dream speaker,” Scherer is a widely recognized contributor in the discovery of copy number variations of DNA. In his time at the University of Toronto, which has one of Canada’s busiest laboratories, Scherer has led a group that has defined copy number variation and other genetic factors underlying autism. Scherer was also part of the first team to generate the genome sequence of an individual.
Scherer underlined the importance of databases such as the CAGdb, which, although new, hold great promise for medical breakthroughs in the near future. But because these resources are so new, he reminded his audience, “setting up the ground rules is going to be very important.”
That is why, Scherer explained, it is so important for geneticists to have meetings like this workshop in Asheville, so that these ground rules can be established and constantly redefined. The workshop brought together the leaders in this field to set up a general guideline for best practices for using these databases going forward.