Researchers from BBI, the Atlas of Variant Effects Alliance, the University of Edinburgh, and other institutions have collaborated on a paper providing guidelines for computational methods assessing potential impacts of genetic mutations, commonly referred to as variant effect predictors (VEPs).
The paper was published in Genome Biology as part of collection of articles entitled, “Towards an atlas of variant effects.” The corresponding author is Professor Joe Marsh, Ph.D., of the MRC Human Genetics Unit, Institute of Genetics and Cancer, at the University of Edinburgh. He is also a member of the AVE Alliance.
“We wrote this paper because the field of variant effect prediction has grown rapidly, but without clear standards for how new tools should be shared,” said Marsh. “Many predictors are difficult to access, poorly documented, or can’t be fairly evaluated. As many of us within the Atlas of Variant Effects Alliance have worked extensively with these tools, we realised that simple, practical guidelines could help make these tools more useful, transparent, and impactful for both research and clinical use.”
BBI’s Lea Starita, Ph.D., one of the authors, credits Marsh for his thorough analysis of VEPs and determination to create transparency.
“Joe led the efforts to pull back the curtain on what each of these variant effects predictors is doing,” Starita said.
