Genetic & Genomic MedicinemedRxivPreprint
Optimizing mixed sample analysis as a step to comprehensive desease screening: a pilot study
Lucia Krasničanová, Natália Forgáčová, Tatiana Sedláčková…·Tomáš Szemes
This study optimizes mixed sample analysis for Lynch Syndrome detection, finding that pooling whole blood samples before DNA isolation is cost-effective and detects pathogenic variants at 5% frequency.
DOI 10.1101/2023.11.07.23297590