Groups closing the gap in reference materials for sequencing assays
March 2015—It’s a truism in the clinical laboratory that your results are only as good as the reference standards available to QC your assay. For measuring small analytes like glucose that’s not a problem. However, in clinical laboratories the analyte in question increasingly is DNA. In the past five years, next-generation sequencing has been adopted to detect variants in small targeted regions of specific genes, which is useful in oncology and medical genetics. More ambitious applications of NGS—whole genome and whole exome sequencing—have recently begun to enter the clinical realm as well.