Methods for Reanalysis of Exome Sequencing Emerging

Clinical whole-exome sequencing (WES) offers diagnosis for approximately 30 percent of patients, but it has exponentially increased the number of variants identified—many of which are of unknown clinical significance. The continuous evolution of genomic knowledge necessitates reanalysis of exome sequencing results over time. Despite recognition that reanalysis with the latest variant databases may enable increased diagnostic yield, reanalysis poses many practical challenges including workflow and time constraints, questions about the effective frequency of reanlaysis, and issues of patient follow-up. There are currently no standards for reanalysis. DTET examined reports from several leading institutions that presented their reanalysis findings at the American College of Medical Genetics and Genomics Annual Clinical Meeting (Charlotte, N.C.; April 10-14). These case reports show some emerging solutions for the challenge of reanalysis of exome sequences. Automated Annotation for Reanalysis of WES Data Automated bioinformatics pipeline may enable providers to efficiently and effectively characterize annotation changes, supplement existing genomic results with these changes, and filter the results for changes of interest, according to a presentation by Charu Kaiwar, M.D., from the Mayo Clinic. Kaiwar reported on a process that enters all negative exome cases into a pipeline capable of providing periodic, time stamped differential outputs. The so-called […]