In NPJ Genomic Medicine, researchers at Rady Children's Hospital, the University of California, San Diego, and elsewhere explore PCR amplification-free strategies for extracting and sequencing DNA from archived newborn dried blood spots going back decades. After applying their DNA extraction and whole-genome library prep approach to 63 dried blood spot (DBS) samples made in the lab using leftover buffered blood samples from more than two dozen individuals who had gone through clinical genome sequencing-based diagnostics in the past, the team attempted to whole-genome sequencing (WGS) on 29 deidentified DBS cards selected at random from the California State Biobank. "[W]e hypothesized that using the newest techniques for WGS without PCR amplification would result in high-quality sequence irrespective of the DBS age or filter paper type," the authors write. "We describe simple, scalable method for WGS on laboratory created DBS and randomly selected, de-identified DBS from the California Biobank Program."
California Team Presents PCR Amplification-Free Method for Archived Dried Blood Spot WGS
Feb 15, 2023