Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG)

Since the initial publication from the Human Genome Project, successive human genome reference versions, called assemblies or builds, have been released. Each new version has benefited from technological advancements and additional data, improving both the overall quality and the representation from diverse populations. The most recent build, Genome Research Consortium (GRC) Human Build 38 (GRCh38), also known as hg38, was released in 2013, 4 years after the previous build, GRCh37 (hg19). Because of the timing of this release and that of the broad availability of next-generation sequencing, many clinical bioinformatics pipelines were developed and validated using the GRCh37 reference sequence.