By combining Nanopore sequencing with a unique molecular identifiers (UMI) error correction model, a team from the Institute of Genetic Epidemiology (led by Stefan and Stephan) successfully sequenced a dark genomic region in the LPA gene with remarkable accuracy, identifying mutations and determining their order. This study helps explain the varying Lp(a) levels in the population and provides new insights into its genetic regulation. The findings were published in Genome Medicine.
Read more about these exciting findings here (German only).