NGS Leaders :: Genome in a Bottle Project

Justin Zook of the National Institute of Standards and Technology (NIST) discussed the progress and future goals of the Genome in a Bottle project, which aims to create near-perfectly characterized human genome sequences for use as reference standards. Members of the Genome in a Bottle Consortium have chosen several human DNA samples to repeatedly sequence on multiple technologies and bioinformatics pipelines, aiming to capture variants from single-nucleotide polymorphisms (SNPs) to massive structural changes with very high accuracy. The NIST could then distribute the same samples to outside organizations for resequencing, to help identify genomic regions or types of variants that tend to be called incorrectly.