Genomic data standards will be essential for continuing the growth of genomics and ensuring its smooth transition into the clinic, according to a new Bio-IT World article written by PacBio scientist Aaron Wenger. The piece nicely sums up recent efforts from the Genome in a Bottle Consortium, the Genome Reference Consortium, and the Global Alliance for Genomics and Health to paint a picture of the state of genomic data standard development today.
“The more we learn about the human genome, the more needs we identify for data standards,” Wenger reports. “For example, early efforts focused on ensuring that single nucleotide variant (SNV) calls could be tested for accuracy; today we know that structural variants, which are responsible for the vast majority of base pair differences between any two people, are just as critical to call with precision.”
While the consortia and other collaborative programs working to fine-tune data standards are doing excellent work, Wenger notes that it is important that the initiatives avoid multiple, possibly competing, standards. “It will be essential for these large consortia to collaborate with each other to ensure that appropriate data standards are available for various needs (such as supporting both SNVs and structural variants) and that the specific use for each is clearly defined,” he writes.
He concludes with a call to all genomic scientists to get involved in these types of efforts. Data standards “will help the genomics community cross an important threshold, from the realm of pioneering tinkerers to a robust, reliable, and highly accurate science that can be readily applied both in research and in the clinic,” Wenger adds.
March 28, 2018 | Human genetics research