ClinVar, designed to house information on the relationships between human variations and phenotypes, not only integrates clinical variation data from numerous publicly available resources, but "also provides, for the first time, a central place in which clinical testing laboratories can deposit their data," Nature says.
Clinical sequencing labs have to perform a considerable amount of analysis on novel variants to determine whether they are benign or pathogenic. But keeping this data in house means that many groups are duplicating their efforts.
"There is a growing recognition that a clinical lab may see a mutation once or never, so it’s better if all those data could be pooled,” says James Ostell, chief of the information engineering branch at NCBI.
“For everybody in the field, I think there will be a sigh of relief that this is finally happening,” adds Stephen Kingsmore of the Children’s Mercy Center for Pediatric Genome Medicine.
He says that when clinical labs share their data through ClinVar, “patients are going to be getting the best thinking of the community as opposed to an individual lab.”